Canonical Allele Identifier: CA1981486845

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435485G= , CM000673.2:g.71435485G=	GRCh38
NC_000011.9:g.71146531G= , CM000673.1:g.71146531G=	GRCh37
NC_000011.8:g.70824179G=	NCBI36
NG_012655.2:g.17947C= , LRG_340:g.17947C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1318C=	ENSP00000435707.3:p.Leu440=
ENST00000526780.6:c.1318C=	ENSP00000435668.2:p.Leu440=
ENST00000527316.6:c.1144C=	ENSP00000435047.2:p.Leu382=
ENST00000682708.1:c.1369C=	ENSP00000506866.1:p.Leu457=
ENST00000683287.1:c.1354C=	ENSP00000507607.1:p.Leu452=
ENST00000683714.1:c.*81C=	ENSP00000508207.1:n.*81C=
ENST00000684396.1:n.1358C=
ENST00000685320.1:c.733C=	ENSP00000509319.1:p.Leu245=
ENST00000690257.1:c.1222C=	ENSP00000510750.1:p.Leu408=
ENST00000355527.8:c.1318C= MANE Select	ENSP00000347717.4:p.Leu440=
ENST00000355527.7:c.1318C=	ENSP00000347717.3:p.Leu440=
ENST00000407721.6:c.1318C=	ENSP00000384739.2:p.Leu440=
ENST00000525137.1:c.819C=	ENSP00000435956.1:n.819C=
ENST00000533800.5:c.568C=	ENSP00000435011.1:p.Leu190=
ENST00000534795.5:c.319+2327C=
NM_001163817.1:c.1318C=	NP_001157289.1:p.Leu440=
NM_001360.2:c.1318C= , LRG_340t1:c.1318C=	NP_001351.2:p.Leu440=
XM_011544777.1:c.*81C=	XP_011543079.1:n.*81C=
XM_011544777.2:c.*81C=	XP_011543079.1:n.*81C=
NM_001163817.2:c.1318C=	NP_001157289.1:p.Leu440=
NM_001360.3:c.1318C= MANE Select	NP_001351.2:p.Leu440=