Canonical Allele Identifier: CA1981486918

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435617C= , CM000673.2:g.71435617C=	GRCh38
NC_000011.9:g.71146663C= , CM000673.1:g.71146663C=	GRCh37
NC_000011.8:g.70824311C=	NCBI36
NG_012655.2:g.17815G= , LRG_340:g.17815G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1186G=	ENSP00000435707.3:p.Val396=
ENST00000526780.6:c.1186G=	ENSP00000435668.2:p.Val396=
ENST00000527316.6:c.1012G=	ENSP00000435047.2:p.Val338=
ENST00000682708.1:c.1237G=	ENSP00000506866.1:p.Val413=
ENST00000683287.1:c.1222G=	ENSP00000507607.1:p.Val408=
ENST00000683714.1:c.1194G=	ENSP00000508207.1:p.Trp398=
ENST00000684396.1:n.1226G=
ENST00000685320.1:c.601G=	ENSP00000509319.1:p.Val201=
ENST00000690257.1:c.1090G=	ENSP00000510750.1:p.Val364=
ENST00000355527.8:c.1186G= MANE Select	ENSP00000347717.4:p.Val396=
ENST00000355527.7:c.1186G=	ENSP00000347717.3:p.Val396=
ENST00000407721.6:c.1186G=	ENSP00000384739.2:p.Val396=
ENST00000525137.1:c.687G=	ENSP00000435956.1:p.Trp229=
ENST00000533800.5:c.436G=	ENSP00000435011.1:p.Val146=
ENST00000534795.5:c.319+2195G=
NM_001163817.1:c.1186G=	NP_001157289.1:p.Val396=
NM_001360.2:c.1186G= , LRG_340t1:c.1186G=	NP_001351.2:p.Val396=
XM_011544777.1:c.1320G=	XP_011543079.1:p.Trp440=
XM_011544777.2:c.1320G=	XP_011543079.1:p.Trp440=
NM_001163817.2:c.1186G=	NP_001157289.1:p.Val396=
NM_001360.3:c.1186G= MANE Select	NP_001351.2:p.Val396=