Canonical Allele Identifier: CA1628826019

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52464995G= , CM000668.2:g.52464995G=	GRCh38
NC_000006.11:g.52329793G= , CM000668.1:g.52329793G=	GRCh37
NC_000006.10:g.52437752G=	NCBI36
NG_016760.1:g.49800G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1017G= MANE Select	ENSP00000360107.4:p.Gly339=
ENST00000480623.6:c.1017G=	ENSP00000434498.2:p.Gly339=
ENST00000635760.1:c.693G=	ENSP00000489765.1:p.Gly231=
ENST00000635812.1:c.*318G=	ENSP00000490859.1:n.*318G=
ENST00000635866.1:c.*886G=	ENSP00000489866.1:n.*886G=
ENST00000635911.1:n.2535G=
ENST00000635984.1:c.693G=	ENSP00000489921.1:p.Gly231=
ENST00000635996.1:c.1017G=	ENSP00000490256.1:p.Gly339=
ENST00000636107.1:c.1017G=	ENSP00000489680.1:p.Gly339=
ENST00000636311.1:n.911G=
ENST00000636343.1:c.683G=
ENST00000636379.1:c.729G=	ENSP00000490622.1:p.Gly243=
ENST00000636398.1:c.717G=	ENSP00000489654.1:n.717G=
ENST00000636489.1:c.960G=	ENSP00000489998.1:p.Gly320=
ENST00000636616.1:n.633G=
ENST00000636702.1:c.987G=	ENSP00000489623.1:p.Gly329=
ENST00000636954.1:c.960G=	ENSP00000489966.1:p.Gly320=
ENST00000637089.1:c.1017G=	ENSP00000489854.1:p.Gly339=
ENST00000637263.1:c.1017G=	ENSP00000489700.1:p.Gly339=
ENST00000637340.1:n.2942G=
ENST00000637353.1:c.1017G=	ENSP00000490441.1:p.Gly339=
ENST00000637602.1:c.*718G=	ENSP00000490074.1:n.*718G=
ENST00000637849.1:n.1081G=
ENST00000637874.1:c.83-4338G=	ENSP00000490348.1:n.83-4338G=
ENST00000637892.1:n.1221G=
ENST00000371068.9:c.1017G=	ENSP00000360107.4:p.Gly339=
ENST00000480623.5:c.*1437G=	ENSP00000434498.1:n.*1437G=
ENST00000538167.2:c.960G=	ENSP00000444521.1:p.Gly320=
NM_001172420.1:c.960G=	NP_001165891.1:p.Gly320=
NM_018100.3:c.1017G=	NP_060570.2:p.Gly339=
NR_033327.1:n.2489G=
NM_018100.4:c.1017G= MANE Select	NP_060570.2:p.Gly339=
NM_001172420.2:c.960G=	NP_001165891.1:p.Gly320=
NR_033327.2:n.2343G=