Canonical Allele Identifier: CA1628826012

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52464978T= , CM000668.2:g.52464978T=	GRCh38
NC_000006.11:g.52329776T= , CM000668.1:g.52329776T=	GRCh37
NC_000006.10:g.52437735T=	NCBI36
NG_016760.1:g.49783T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1000T= MANE Select	ENSP00000360107.4:p.Ser334=
ENST00000480623.6:c.1000T=	ENSP00000434498.2:p.Ser334=
ENST00000635760.1:c.676T=	ENSP00000489765.1:p.Ser226=
ENST00000635812.1:c.*301T=	ENSP00000490859.1:n.*301T=
ENST00000635866.1:c.*869T=	ENSP00000489866.1:n.*869T=
ENST00000635911.1:n.2518T=
ENST00000635984.1:c.676T=	ENSP00000489921.1:p.Ser226=
ENST00000635996.1:c.1000T=	ENSP00000490256.1:p.Ser334=
ENST00000636107.1:c.1000T=	ENSP00000489680.1:p.Ser334=
ENST00000636311.1:n.894T=
ENST00000636343.1:c.666T=
ENST00000636379.1:c.712T=	ENSP00000490622.1:p.Ser238=
ENST00000636398.1:c.700T=	ENSP00000489654.1:n.700T=
ENST00000636489.1:c.943T=	ENSP00000489998.1:p.Ser315=
ENST00000636616.1:n.616T=
ENST00000636702.1:c.970T=	ENSP00000489623.1:p.Ser324=
ENST00000636954.1:c.943T=	ENSP00000489966.1:p.Ser315=
ENST00000637089.1:c.1000T=	ENSP00000489854.1:p.Ser334=
ENST00000637263.1:c.1000T=	ENSP00000489700.1:p.Ser334=
ENST00000637340.1:n.2925T=
ENST00000637353.1:c.1000T=	ENSP00000490441.1:p.Ser334=
ENST00000637602.1:c.*701T=	ENSP00000490074.1:n.*701T=
ENST00000637849.1:n.1064T=
ENST00000637874.1:c.83-4355T=	ENSP00000490348.1:n.83-4355T=
ENST00000637892.1:n.1204T=
ENST00000371068.9:c.1000T=	ENSP00000360107.4:p.Ser334=
ENST00000480623.5:c.*1420T=	ENSP00000434498.1:n.*1420T=
ENST00000538167.2:c.943T=	ENSP00000444521.1:p.Ser315=
NM_001172420.1:c.943T=	NP_001165891.1:p.Ser315=
NM_018100.3:c.1000T=	NP_060570.2:p.Ser334=
NR_033327.1:n.2472T=
NM_018100.4:c.1000T= MANE Select	NP_060570.2:p.Ser334=
NM_001172420.2:c.943T=	NP_001165891.1:p.Ser315=
NR_033327.2:n.2326T=