Canonical Allele Identifier: CA174740

Gene: EFCAB6

Linked Data

• ClinVar Variation Id: 161763
• ClinVar RCV Id: RCV000149299
• dbSNP Id: rs193920984
• ExAC: 22:44168809 G / A
• gnomAD v2: 22-44168809-G-A
• gnomAD v3: 22-43772929-G-A
• gnomAD v4: 22-43772929-G-A
• COSMIC: COSM1178789
• MyVariant Identifiers: chr22:g.44168809G>A (hg19) ; chr22:g.43772929G>A (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43772929G>A , CM000684.2:g.43772929G>A	GRCh38
NC_000022.10:g.44168809G>A , CM000684.1:g.44168809G>A	GRCh37
NC_000022.9:g.42500142G>A	NCBI36
NG_030019.1:g.44409C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262726.12:c.314C>T MANE Select	ENSP00000262726.7:p.Pro105Leu
ENST00000262726.11:c.314C>T	ENSP00000262726.7:p.Pro105Leu
ENST00000356087.8:c.34-7536C>T	ENSP00000348391.4:n.34-7536C>T
ENST00000396231.6:c.-105-7536C>T	ENSP00000379533.2:n.-105-7536C>T
ENST00000404038.5:n.628C>T
ENST00000476600.5:n.331-7536C>T
NM_022785.3:c.314C>T	NP_073622.2:p.Pro105Leu
NM_198856.2:c.-105-7536C>T	NP_942153.1:n.-105-7536C>T
XM_005261704.2:c.314C>T	XP_005261761.1:p.Pro105Leu
XM_005261705.2:c.34-7536C>T	XP_005261762.1:n.34-7536C>T
XM_011530316.1:c.392C>T	XP_011528618.1:p.Pro131Leu
XM_011530317.1:c.314C>T	XP_011528619.1:p.Pro105Leu
XM_011530318.1:c.392C>T	XP_011528620.1:p.Pro131Leu
XM_011530319.1:c.34-7536C>T	XP_011528621.1:n.34-7536C>T
XM_011530320.1:c.392C>T	XP_011528622.1:p.Pro131Leu
XM_011530321.1:c.-105-7536C>T	XP_011528623.1:n.-105-7536C>T
XM_011530322.1:c.-233-7536C>T	XP_011528624.1:n.-233-7536C>T
XM_011530324.1:c.33+9251C>T	XP_011528626.1:n.33+9251C>T
XM_011530326.1:c.392C>T	XP_011528628.1:p.Pro131Leu
XM_011530328.1:c.392C>T	XP_011528630.1:p.Pro131Leu
XM_011530330.1:c.392C>T	XP_011528632.1:p.Pro131Leu
XR_937895.1:n.688C>T
XR_937896.1:n.688C>T
XM_005261705.4:c.34-7536C>T	XP_005261762.1:n.34-7536C>T
XM_011530317.3:c.314C>T	XP_011528619.1:p.Pro105Leu
XM_011530318.3:c.392C>T	XP_011528620.1:p.Pro131Leu
XM_011530319.3:c.34-7536C>T	XP_011528621.1:n.34-7536C>T
XM_011530320.3:c.392C>T	XP_011528622.1:p.Pro131Leu
XM_011530321.3:c.-105-7536C>T	XP_011528623.1:n.-105-7536C>T
XM_011530326.3:c.392C>T	XP_011528628.1:p.Pro131Leu
XM_011530328.3:c.392C>T	XP_011528630.1:p.Pro131Leu
XM_011530330.3:c.392C>T	XP_011528632.1:p.Pro131Leu
XM_017028910.2:c.392C>T	XP_016884399.1:p.Pro131Leu
XM_017028911.2:c.392C>T	XP_016884400.1:p.Pro131Leu
XM_017028912.2:c.33+9251C>T	XP_016884401.1:n.33+9251C>T
XM_024452262.1:c.-271C>T	XP_024308030.1:n.-271C>T
XR_001755274.2:n.1375C>T
XR_937895.3:n.1375C>T
XR_937896.3:n.1375C>T
NM_022785.4:c.314C>T MANE Select	NP_073622.2:p.Pro105Leu
NM_198856.3:c.-105-7536C>T	NP_942153.1:n.-105-7536C>T