Canonical Allele Identifier: CA314464

Gene: EFHC1

Linked Data

• ClinVar Variation Id: 205415
• ClinVar RCV Id: RCV000187373 ; RCV000347358
• dbSNP Id: rs201197637
• ExAC: 6:52355062 G / A
• gnomAD v2: 6-52355062-G-A
• gnomAD v3: 6-52490264-G-A
• gnomAD v4: 6-52490264-G-A
• MyVariant Identifiers: chr6:g.52355062G>A (hg19) ; chr6:g.52490264G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52490264G>A , CM000668.2:g.52490264G>A	GRCh38
NC_000006.11:g.52355062G>A , CM000668.1:g.52355062G>A	GRCh37
NC_000006.10:g.52463021G>A	NCBI36
NG_016760.1:g.75069G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1765G>A MANE Select	ENSP00000360107.4:p.Glu589Lys
ENST00000480623.6:c.*321G>A	ENSP00000434498.2:n.*321G>A
ENST00000481466.2:n.150G>A
ENST00000635760.1:c.1441G>A	ENSP00000489765.1:p.Glu481Lys
ENST00000635866.1:c.*1634G>A	ENSP00000489866.1:n.*1634G>A
ENST00000635911.1:n.3283G>A
ENST00000635996.1:c.1765G>A	ENSP00000490256.1:p.Glu589Lys
ENST00000636311.1:n.1659G>A
ENST00000636343.1:c.1431G>A
ENST00000636379.1:c.1477G>A	ENSP00000490622.1:p.Glu493Lys
ENST00000636398.1:c.1465G>A	ENSP00000489654.1:n.1465G>A
ENST00000636489.1:c.1708G>A	ENSP00000489998.1:p.Glu570Lys
ENST00000636616.1:n.1326G>A
ENST00000636702.1:c.1735G>A	ENSP00000489623.1:p.Glu579Lys
ENST00000636954.1:c.1708G>A	ENSP00000489966.1:p.Glu570Lys
ENST00000637089.1:c.1765G>A	ENSP00000489854.1:p.Glu589Lys
ENST00000637121.1:n.1567G>A
ENST00000637340.1:n.3690G>A
ENST00000637353.1:c.1765G>A	ENSP00000490441.1:p.Glu589Lys
ENST00000637602.1:c.*1466G>A	ENSP00000490074.1:n.*1466G>A
ENST00000371068.9:c.1765G>A	ENSP00000360107.4:p.Glu589Lys
ENST00000480623.5:c.*2185G>A	ENSP00000434498.1:n.*2185G>A
ENST00000481466.1:n.244G>A
ENST00000538167.2:c.1708G>A	ENSP00000444521.1:p.Glu570Lys
NM_001172420.1:c.1708G>A	NP_001165891.1:p.Glu570Lys
NM_018100.3:c.1765G>A	NP_060570.2:p.Glu589Lys
NR_033327.1:n.3237G>A
NM_018100.4:c.1765G>A MANE Select	NP_060570.2:p.Glu589Lys
NM_001172420.2:c.1708G>A	NP_001165891.1:p.Glu570Lys
NR_033327.2:n.3091G>A