Canonical Allele Identifier: CA1628833239

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479700G= , CM000668.2:g.52479700G=	GRCh38
NC_000006.11:g.52344498G= , CM000668.1:g.52344498G=	GRCh37
NC_000006.10:g.52452457G=	NCBI36
NG_016760.1:g.64505G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1553G= MANE Select	ENSP00000360107.4:p.Ser518=
ENST00000480623.6:c.1553G=	ENSP00000434498.2:p.Ser518=
ENST00000635760.1:c.1229G=	ENSP00000489765.1:p.Ser410=
ENST00000635812.1:c.*854G=	ENSP00000490859.1:n.*854G=
ENST00000635866.1:c.*1422G=	ENSP00000489866.1:n.*1422G=
ENST00000635911.1:n.3071G=
ENST00000635984.1:c.1229G=	ENSP00000489921.1:p.Ser410=
ENST00000635996.1:c.1553G=	ENSP00000490256.1:p.Ser518=
ENST00000636107.1:c.1553G=	ENSP00000489680.1:p.Ser518=
ENST00000636311.1:n.1447G=
ENST00000636343.1:c.1219G=
ENST00000636379.1:c.1265G=	ENSP00000490622.1:p.Ser422=
ENST00000636398.1:c.1253G=	ENSP00000489654.1:n.1253G=
ENST00000636489.1:c.1496G=	ENSP00000489998.1:p.Ser499=
ENST00000636616.1:n.1114G=
ENST00000636702.1:c.1523G=	ENSP00000489623.1:p.Ser508=
ENST00000636954.1:c.1496G=	ENSP00000489966.1:p.Ser499=
ENST00000637089.1:c.1553G=	ENSP00000489854.1:p.Ser518=
ENST00000637121.1:n.1355G=
ENST00000637263.1:c.1553G=	ENSP00000489700.1:p.Ser518=
ENST00000637340.1:n.3478G=
ENST00000637353.1:c.1553G=	ENSP00000490441.1:p.Ser518=
ENST00000637602.1:c.*1254G=	ENSP00000490074.1:n.*1254G=
ENST00000637849.1:n.1617G=
ENST00000637892.1:n.1757G=
ENST00000371068.9:c.1553G=	ENSP00000360107.4:p.Ser518=
ENST00000480623.5:c.*1973G=	ENSP00000434498.1:n.*1973G=
ENST00000538167.2:c.1496G=	ENSP00000444521.1:p.Ser499=
NM_001172420.1:c.1496G=	NP_001165891.1:p.Ser499=
NM_018100.3:c.1553G=	NP_060570.2:p.Ser518=
NR_033327.1:n.3025G=
NM_018100.4:c.1553G= MANE Select	NP_060570.2:p.Ser518=
NM_001172420.2:c.1496G=	NP_001165891.1:p.Ser499=
NR_033327.2:n.2879G=