Canonical Allele Identifier: CA1628833254

Gene: EFHC1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52479704C= , CM000668.2:g.52479704C=	GRCh38
NC_000006.11:g.52344502C= , CM000668.1:g.52344502C=	GRCh37
NC_000006.10:g.52452461C=	NCBI36
NG_016760.1:g.64509C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371068.11:c.1557C= MANE Select	ENSP00000360107.4:p.Asn519=
ENST00000480623.6:c.1557C=	ENSP00000434498.2:p.Asn519=
ENST00000635760.1:c.1233C=	ENSP00000489765.1:p.Asn411=
ENST00000635812.1:c.*858C=	ENSP00000490859.1:n.*858C=
ENST00000635866.1:c.*1426C=	ENSP00000489866.1:n.*1426C=
ENST00000635911.1:n.3075C=
ENST00000635984.1:c.1233C=	ENSP00000489921.1:p.Asn411=
ENST00000635996.1:c.1557C=	ENSP00000490256.1:p.Asn519=
ENST00000636107.1:c.1557C=	ENSP00000489680.1:p.Asn519=
ENST00000636311.1:n.1451C=
ENST00000636343.1:c.1223C=
ENST00000636379.1:c.1269C=	ENSP00000490622.1:p.Asn423=
ENST00000636398.1:c.1257C=	ENSP00000489654.1:n.1257C=
ENST00000636489.1:c.1500C=	ENSP00000489998.1:p.Asn500=
ENST00000636616.1:n.1118C=
ENST00000636702.1:c.1527C=	ENSP00000489623.1:p.Asn509=
ENST00000636954.1:c.1500C=	ENSP00000489966.1:p.Asn500=
ENST00000637089.1:c.1557C=	ENSP00000489854.1:p.Asn519=
ENST00000637121.1:n.1359C=
ENST00000637263.1:c.1557C=	ENSP00000489700.1:p.Asn519=
ENST00000637340.1:n.3482C=
ENST00000637353.1:c.1557C=	ENSP00000490441.1:p.Asn519=
ENST00000637602.1:c.*1258C=	ENSP00000490074.1:n.*1258C=
ENST00000637849.1:n.1621C=
ENST00000637892.1:n.1761C=
ENST00000371068.9:c.1557C=	ENSP00000360107.4:p.Asn519=
ENST00000480623.5:c.*1977C=	ENSP00000434498.1:n.*1977C=
ENST00000538167.2:c.1500C=	ENSP00000444521.1:p.Asn500=
NM_001172420.1:c.1500C=	NP_001165891.1:p.Asn500=
NM_018100.3:c.1557C=	NP_060570.2:p.Asn519=
NR_033327.1:n.3029C=
NM_018100.4:c.1557C= MANE Select	NP_060570.2:p.Asn519=
NM_001172420.2:c.1500C=	NP_001165891.1:p.Asn500=
NR_033327.2:n.2883C=