Canonical Allele Identifier: CA1628833372

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479760G= , CM000668.2:g.52479760G=	GRCh38
NC_000006.11:g.52344558G= , CM000668.1:g.52344558G=	GRCh37
NC_000006.10:g.52452517G=	NCBI36
NG_016760.1:g.64565G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1613G= MANE Select	ENSP00000360107.4:p.Arg538=
ENST00000480623.6:c.1613G=	ENSP00000434498.2:p.Arg538=
ENST00000635760.1:c.1289G=	ENSP00000489765.1:p.Arg430=
ENST00000635812.1:c.*914G=	ENSP00000490859.1:n.*914G=
ENST00000635866.1:c.*1482G=	ENSP00000489866.1:n.*1482G=
ENST00000635911.1:n.3131G=
ENST00000635984.1:c.1289G=	ENSP00000489921.1:p.Arg430=
ENST00000635996.1:c.1613G=	ENSP00000490256.1:p.Arg538=
ENST00000636107.1:c.1613G=	ENSP00000489680.1:p.Arg538=
ENST00000636311.1:n.1507G=
ENST00000636343.1:c.1279G=
ENST00000636379.1:c.1325G=	ENSP00000490622.1:p.Arg442=
ENST00000636398.1:c.1313G=	ENSP00000489654.1:n.1313G=
ENST00000636489.1:c.1556G=	ENSP00000489998.1:p.Arg519=
ENST00000636616.1:n.1174G=
ENST00000636702.1:c.1583G=	ENSP00000489623.1:p.Arg528=
ENST00000636954.1:c.1556G=	ENSP00000489966.1:p.Arg519=
ENST00000637089.1:c.1613G=	ENSP00000489854.1:p.Arg538=
ENST00000637121.1:n.1415G=
ENST00000637263.1:c.1613G=	ENSP00000489700.1:p.Arg538=
ENST00000637340.1:n.3538G=
ENST00000637353.1:c.1613G=	ENSP00000490441.1:p.Arg538=
ENST00000637602.1:c.*1314G=	ENSP00000490074.1:n.*1314G=
ENST00000637849.1:n.1677G=
ENST00000637892.1:n.1817G=
ENST00000371068.9:c.1613G=	ENSP00000360107.4:p.Arg538=
ENST00000480623.5:c.*2033G=	ENSP00000434498.1:n.*2033G=
ENST00000538167.2:c.1556G=	ENSP00000444521.1:p.Arg519=
NM_001172420.1:c.1556G=	NP_001165891.1:p.Arg519=
NM_018100.3:c.1613G=	NP_060570.2:p.Arg538=
NR_033327.1:n.3085G=
NM_018100.4:c.1613G= MANE Select	NP_060570.2:p.Arg538=
NM_001172420.2:c.1556G=	NP_001165891.1:p.Arg519=
NR_033327.2:n.2939G=