Canonical Allele Identifier: CA16549287
Gene: EPB41L3 HGNC NCBI

Linked Data

dbSNP Id: rs1539809
gnomAD v2: 18-5529675-C-T
gnomAD v3: 18-5529676-C-T
gnomAD v4: 18-5529676-C-T
MyVariant Identifiers: chr18:g.5529675C>T (hg19) chr18:g.5529676C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.5529676C>T , CM000680.2:g.5529676C>T GRCh38
NC_000018.9:g.5529675C>T , CM000680.1:g.5529675C>T GRCh37
NC_000018.8:g.5519675C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000341928.7:c.-12+14237G>A MANE Select ENSP00000343158.2:n.-12+14237G>A
ENST00000400111.8:c.-12+14237G>A ENSP00000382981.5:n.-12+14237G>A
ENST00000637651.1:c.-305-40515G>A ENSP00000489681.1:n.-305-40515G>A
ENST00000341928.6:c.-12+14237G>A ENSP00000343158.2:n.-12+14237G>A
ENST00000342933.7:c.-12+14237G>A ENSP00000341138.4:n.-12+14237G>A
ENST00000400111.7:c.-339+14237G>A ENSP00000382981.4:n.-339+14237G>A
ENST00000540638.6:c.-12+14237G>A ENSP00000442091.2:n.-12+14237G>A
ENST00000544123.5:c.-12+10664G>A ENSP00000441174.1:n.-12+10664G>A
ENST00000545076.5:c.-305-40515G>A ENSP00000488626.1:n.-305-40515G>A
ENST00000578431.1:n.325-40515G>A
ENST00000580179.2:c.-95+9945G>A ENSP00000464336.1:n.-95+9945G>A
ENST00000581833.5:c.-12+9945G>A ENSP00000461937.1:n.-12+9945G>A
ENST00000582592.1:c.56-40482G>A ENSP00000463707.1:n.56-40482G>A
ENST00000582703.5:c.-126+9945G>A ENSP00000462338.1:n.-126+9945G>A
ENST00000584015.5:c.-12+13637G>A ENSP00000464148.1:n.-12+13637G>A
ENST00000584670.1:c.36+9945G>A ENSP00000462783.1:n.36+9945G>A
ENST00000585142.5:c.-12+10664G>A ENSP00000463289.1:n.-12+10664G>A
NM_001281533.1:c.-12+10664G>A NP_001268462.1:n.-12+10664G>A
NM_001281534.1:c.-12+14237G>A NP_001268463.1:n.-12+14237G>A
NM_001281535.1:c.-305-40515G>A NP_001268464.1:n.-305-40515G>A
NM_012307.3:c.-12+14237G>A NP_036439.2:n.-12+14237G>A
XM_011525614.1:c.-12+9945G>A XP_011523916.1:n.-12+9945G>A
XM_011525615.1:c.-12+14237G>A XP_011523917.1:n.-12+14237G>A
XM_011525616.1:c.-12+10664G>A XP_011523918.1:n.-12+10664G>A
XM_011525617.1:c.-11-40482G>A XP_011523919.1:n.-11-40482G>A
XM_011525619.1:c.-12+14237G>A XP_011523921.1:n.-12+14237G>A
XM_011525620.1:c.-305-40515G>A XP_011523922.1:n.-305-40515G>A
NM_001330557.1:c.-12+14237G>A NP_001317486.1:n.-12+14237G>A
XM_011525623.3:c.-12+14237G>A XP_011523925.1:n.-12+14237G>A
XM_017025622.2:c.-12+14237G>A XP_016881111.1:n.-12+14237G>A
XM_017025627.2:c.-12+14237G>A XP_016881116.1:n.-12+14237G>A
XM_017025628.2:c.-12+14237G>A XP_016881117.1:n.-12+14237G>A
XM_017025629.2:c.-12+14237G>A XP_016881118.1:n.-12+14237G>A
XM_017025632.2:c.-12+14237G>A XP_016881121.1:n.-12+14237G>A
XM_017025636.2:c.-12+14237G>A XP_016881125.1:n.-12+14237G>A
XM_017025637.2:c.-12+14237G>A XP_016881126.1:n.-12+14237G>A
XM_017025639.2:c.-12+14237G>A XP_016881128.1:n.-12+14237G>A
XM_017025640.2:c.-12+14237G>A XP_016881129.1:n.-12+14237G>A
XM_017025642.2:c.-12+14237G>A XP_016881131.1:n.-12+14237G>A
XM_017025643.2:c.-12+14237G>A XP_016881132.1:n.-12+14237G>A
XM_017025644.2:c.-12+14237G>A XP_016881133.1:n.-12+14237G>A
XM_017025645.2:c.-305-40515G>A XP_016881134.1:n.-305-40515G>A
XM_017025646.2:c.-12+14237G>A XP_016881135.1:n.-12+14237G>A
XM_017025647.2:c.-305-40515G>A XP_016881136.1:n.-305-40515G>A
XM_017025648.2:c.-305-40515G>A XP_016881137.1:n.-305-40515G>A
XM_017025649.2:c.-305-40515G>A XP_016881138.1:n.-305-40515G>A
XM_017025650.2:c.-305-40515G>A XP_016881139.1:n.-305-40515G>A
XM_017025651.2:c.-305-40515G>A XP_016881140.1:n.-305-40515G>A
XM_017025652.2:c.-305-40515G>A XP_016881141.1:n.-305-40515G>A
XM_017025653.2:c.-305-40515G>A XP_016881142.1:n.-305-40515G>A
XM_017025654.2:c.-305-40515G>A XP_016881143.1:n.-305-40515G>A
XM_017025655.2:c.-305-40515G>A XP_016881144.1:n.-305-40515G>A
XM_017025656.2:c.-305-40515G>A XP_016881145.1:n.-305-40515G>A
XM_017025657.2:c.-305-40515G>A XP_016881146.1:n.-305-40515G>A
XM_017025658.2:c.-305-40515G>A XP_016881147.1:n.-305-40515G>A
XM_017025659.2:c.-305-40515G>A XP_016881148.1:n.-305-40515G>A
XM_017025660.2:c.-305-40515G>A XP_016881149.1:n.-305-40515G>A
NM_001281534.2:c.-12+14237G>A NP_001268463.1:n.-12+14237G>A
NM_012307.4:c.-12+14237G>A NP_036439.2:n.-12+14237G>A
NM_001281533.2:c.-12+10664G>A NP_001268462.1:n.-12+10664G>A
NM_001281534.3:c.-12+14237G>A NP_001268463.1:n.-12+14237G>A
NM_001281535.2:c.-305-40515G>A NP_001268464.1:n.-305-40515G>A
NM_001330557.2:c.-12+14237G>A NP_001317486.1:n.-12+14237G>A
NM_001384682.1:c.-12+14237G>A NP_001371611.1:n.-12+14237G>A
NM_001384683.1:c.-305-40515G>A NP_001371612.1:n.-305-40515G>A
NM_001384685.1:c.-12+14237G>A NP_001371614.1:n.-12+14237G>A
NM_001384686.1:c.-12+14237G>A NP_001371615.1:n.-12+14237G>A
NM_001384687.1:c.-12+14237G>A NP_001371616.1:n.-12+14237G>A
NM_001384689.1:c.-12+14237G>A NP_001371618.1:n.-12+14237G>A
NM_001384691.1:c.-12+14237G>A NP_001371620.1:n.-12+14237G>A
NM_001384692.1:c.-12+14237G>A NP_001371621.1:n.-12+14237G>A
NM_001384693.1:c.-12+14237G>A NP_001371622.1:n.-12+14237G>A
NM_001384694.1:c.-12+14237G>A NP_001371623.1:n.-12+14237G>A
NM_001384695.1:c.-12+14237G>A NP_001371624.1:n.-12+14237G>A
NM_001384696.1:c.-12+14237G>A NP_001371625.1:n.-12+14237G>A
NM_001384697.1:c.-12+14237G>A NP_001371626.1:n.-12+14237G>A
NM_001384698.1:c.-305-40515G>A NP_001371627.1:n.-305-40515G>A
NM_001384699.1:c.-305-40515G>A NP_001371628.1:n.-305-40515G>A
NM_001384700.1:c.-305-40515G>A NP_001371629.1:n.-305-40515G>A
NM_001384701.1:c.-305-40515G>A NP_001371630.1:n.-305-40515G>A
NM_001384702.1:c.-305-40515G>A NP_001371631.1:n.-305-40515G>A
NM_001384703.1:c.-305-40515G>A NP_001371632.1:n.-305-40515G>A
NM_001384704.1:c.-305-40515G>A NP_001371633.1:n.-305-40515G>A
NM_001384705.1:c.-305-40515G>A NP_001371634.1:n.-305-40515G>A
NM_001384706.1:c.-305-40515G>A NP_001371635.1:n.-305-40515G>A
NM_012307.5:c.-12+14237G>A MANE Select NP_036439.2:n.-12+14237G>A
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