Canonical Allele Identifier: CA1628832388

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479061G= , CM000668.2:g.52479061G=	GRCh38
NC_000006.11:g.52343859G= , CM000668.1:g.52343859G=	GRCh37
NC_000006.10:g.52451818G=	NCBI36
NG_016760.1:g.63866G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1303G= MANE Select	ENSP00000360107.4:p.Asp435=
ENST00000480623.6:c.1303G=	ENSP00000434498.2:p.Asp435=
ENST00000635760.1:c.979G=	ENSP00000489765.1:p.Asp327=
ENST00000635812.1:c.*604G=	ENSP00000490859.1:n.*604G=
ENST00000635866.1:c.*1172G=	ENSP00000489866.1:n.*1172G=
ENST00000635911.1:n.2821G=
ENST00000635984.1:c.979G=	ENSP00000489921.1:p.Asp327=
ENST00000635996.1:c.1303G=	ENSP00000490256.1:p.Asp435=
ENST00000636107.1:c.1303G=	ENSP00000489680.1:p.Asp435=
ENST00000636311.1:n.1197G=
ENST00000636343.1:c.969G=
ENST00000636379.1:c.1015G=	ENSP00000490622.1:p.Asp339=
ENST00000636398.1:c.1003G=	ENSP00000489654.1:n.1003G=
ENST00000636489.1:c.1246G=	ENSP00000489998.1:p.Asp416=
ENST00000636616.1:n.895-31G=
ENST00000636702.1:c.1273G=	ENSP00000489623.1:p.Asp425=
ENST00000636954.1:c.1246G=	ENSP00000489966.1:p.Asp416=
ENST00000637089.1:c.1303G=	ENSP00000489854.1:p.Asp435=
ENST00000637121.1:n.1105G=
ENST00000637263.1:c.1303G=	ENSP00000489700.1:p.Asp435=
ENST00000637340.1:n.3228G=
ENST00000637353.1:c.1303G=	ENSP00000490441.1:p.Asp435=
ENST00000637602.1:c.*1004G=	ENSP00000490074.1:n.*1004G=
ENST00000637849.1:n.1367G=
ENST00000637874.1:c.248G=	ENSP00000490348.1:n.248G=
ENST00000637892.1:n.1507G=
ENST00000371068.9:c.1303G=	ENSP00000360107.4:p.Asp435=
ENST00000480623.5:c.*1723G=	ENSP00000434498.1:n.*1723G=
ENST00000538167.2:c.1246G=	ENSP00000444521.1:p.Asp416=
NM_001172420.1:c.1246G=	NP_001165891.1:p.Asp416=
NM_018100.3:c.1303G=	NP_060570.2:p.Asp435=
NR_033327.1:n.2775G=
NM_018100.4:c.1303G= MANE Select	NP_060570.2:p.Asp435=
NM_001172420.2:c.1246G=	NP_001165891.1:p.Asp416=
NR_033327.2:n.2629G=