Canonical Allele Identifier: CA149002

Gene: EFHC1

Linked Data

• ClinVar Variation Id: 95886
• ClinVar RCV Id: RCV003764768 ; RCV003915095
• dbSNP Id: rs73740379
• ExAC: 6:52317541 A / T
• gnomAD v2: 6-52317541-A-T
• gnomAD v3: 6-52452743-A-T
• gnomAD v4: 6-52452743-A-T
• MyVariant Identifiers: chr6:g.52317541A>T (hg19) ; chr6:g.52452743A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52452743A>T , CM000668.2:g.52452743A>T	GRCh38
NC_000006.11:g.52317541A>T , CM000668.1:g.52317541A>T	GRCh37
NC_000006.10:g.52425500A>T	NCBI36
NG_016760.1:g.37548A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371068.11:c.629A>T MANE Select	ENSP00000360107.4:p.Asp210Val
ENST00000480623.6:c.629A>T	ENSP00000434498.2:p.Asp210Val
ENST00000635760.1:c.305A>T	ENSP00000489765.1:p.Asp102Val
ENST00000635812.1:c.629A>T	ENSP00000490859.1:p.Asp210Val
ENST00000635866.1:c.*498A>T	ENSP00000489866.1:n.*498A>T
ENST00000635911.1:n.890A>T
ENST00000635984.1:c.305A>T	ENSP00000489921.1:p.Asp102Val
ENST00000635996.1:c.629A>T	ENSP00000490256.1:p.Asp210Val
ENST00000636107.1:c.629A>T	ENSP00000489680.1:p.Asp210Val
ENST00000636253.1:n.283A>T
ENST00000636311.1:n.523A>T
ENST00000636343.1:c.295A>T
ENST00000636379.1:c.341A>T	ENSP00000490622.1:p.Asp114Val
ENST00000636398.1:c.296A>T	ENSP00000489654.1:p.Asp99Val
ENST00000636489.1:c.572A>T	ENSP00000489998.1:p.Asp191Val
ENST00000636702.1:c.599A>T	ENSP00000489623.1:p.Asp200Val
ENST00000636954.1:c.572A>T	ENSP00000489966.1:p.Asp191Val
ENST00000637089.1:c.629A>T	ENSP00000489854.1:p.Asp210Val
ENST00000637200.1:c.*645A>T	ENSP00000490567.1:n.*645A>T
ENST00000637263.1:c.629A>T	ENSP00000489700.1:p.Asp210Val
ENST00000637340.1:n.1297A>T
ENST00000637353.1:c.629A>T	ENSP00000490441.1:p.Asp210Val
ENST00000637602.1:c.*330A>T	ENSP00000490074.1:n.*330A>T
ENST00000637849.1:n.693A>T
ENST00000637892.1:n.833A>T
ENST00000638075.1:c.11A>T	ENSP00000490711.1:p.Asp4Val
ENST00000371068.9:c.629A>T	ENSP00000360107.4:p.Asp210Val
ENST00000480623.5:c.629A>T	ENSP00000434498.1:p.Asp210Val
ENST00000538167.2:c.572A>T	ENSP00000444521.1:p.Asp191Val
NM_001172420.1:c.572A>T	NP_001165891.1:p.Asp191Val
NM_018100.3:c.629A>T	NP_060570.2:p.Asp210Val
NR_033327.1:n.844A>T
NM_018100.4:c.629A>T MANE Select	NP_060570.2:p.Asp210Val
NM_001172420.2:c.572A>T	NP_001165891.1:p.Asp191Val
NR_033327.2:n.698A>T