Canonical Allele Identifier: CA314476

Gene: EFHC1

Linked Data

• ClinVar Variation Id: 205422
• ClinVar RCV Id: RCV000187381
• dbSNP Id: rs745406233
• ExAC: 6:52357123 G / A
• gnomAD v2: 6-52357123-G-A
• gnomAD v3: 6-52492325-G-A
• gnomAD v4: 6-52492325-G-A
• COSMIC: COSM4680327
• MyVariant Identifiers: chr6:g.52357123G>A (hg19) ; chr6:g.52492325G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52492325G>A , CM000668.2:g.52492325G>A	GRCh38
NC_000006.11:g.52357123G>A , CM000668.1:g.52357123G>A	GRCh37
NC_000006.10:g.52465082G>A	NCBI36
NG_016760.1:g.77130G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1907G>A MANE Select	ENSP00000360107.4:p.Arg636His
ENST00000480623.6:c.*463G>A	ENSP00000434498.2:n.*463G>A
ENST00000481466.2:n.292G>A
ENST00000635760.1:c.1583G>A	ENSP00000489765.1:p.Arg528His
ENST00000635866.1:c.*1776G>A	ENSP00000489866.1:n.*1776G>A
ENST00000635911.1:n.3425G>A
ENST00000636311.1:n.1801G>A
ENST00000636343.1:c.1517+1975G>A
ENST00000636379.1:c.1619G>A	ENSP00000490622.1:p.Arg540His
ENST00000636398.1:c.1607G>A	ENSP00000489654.1:n.1607G>A
ENST00000636489.1:c.1850G>A	ENSP00000489998.1:p.Arg617His
ENST00000636616.1:n.1468G>A
ENST00000636702.1:c.1877G>A	ENSP00000489623.1:p.Arg626His
ENST00000636954.1:c.1850G>A	ENSP00000489966.1:p.Arg617His
ENST00000637089.1:c.1851+1975G>A	ENSP00000489854.1:n.1851+1975G>A
ENST00000637121.1:n.1709G>A
ENST00000637340.1:n.3832G>A
ENST00000637353.1:c.1851+1975G>A	ENSP00000490441.1:n.1851+1975G>A
ENST00000637602.1:c.*1552+1975G>A	ENSP00000490074.1:n.*1552+1975G>A
ENST00000371068.9:c.1907G>A	ENSP00000360107.4:p.Arg636His
ENST00000480623.5:c.*2327G>A	ENSP00000434498.1:n.*2327G>A
ENST00000481466.1:n.386G>A
ENST00000538167.2:c.1850G>A	ENSP00000444521.1:p.Arg617His
NM_001172420.1:c.1850G>A	NP_001165891.1:p.Arg617His
NM_018100.3:c.1907G>A	NP_060570.2:p.Arg636His
NR_033327.1:n.3379G>A
NM_018100.4:c.1907G>A MANE Select	NP_060570.2:p.Arg636His
NM_001172420.2:c.1850G>A	NP_001165891.1:p.Arg617His
NR_033327.2:n.3233G>A