Canonical Allele Identifier: CA381702957

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71148896C>A (hg19) ; chr11:g.71437850C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437850C>A , CM000673.2:g.71437850C>A	GRCh38
NC_000011.9:g.71148896C>A , CM000673.1:g.71148896C>A	GRCh37
NC_000011.8:g.70826544C>A	NCBI36
NG_012655.2:g.15582G>T , LRG_340:g.15582G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.925G>T	ENSP00000435707.3:p.Gly309Cys
ENST00000526780.6:c.925G>T	ENSP00000435668.2:p.Gly309Cys
ENST00000527316.6:c.751G>T	ENSP00000435047.2:p.Gly251Cys
ENST00000682708.1:c.976G>T	ENSP00000506866.1:p.Gly326Cys
ENST00000682880.1:c.925G>T	ENSP00000507520.1:p.Gly309Cys
ENST00000683287.1:c.961G>T	ENSP00000507607.1:p.Gly321Cys
ENST00000683714.1:c.925G>T	ENSP00000508207.1:p.Gly309Cys
ENST00000684396.1:n.965G>T
ENST00000685320.1:c.340G>T	ENSP00000509319.1:p.Gly114Cys
ENST00000690257.1:c.829G>T	ENSP00000510750.1:p.Gly277Cys
ENST00000355527.8:c.925G>T MANE Select	ENSP00000347717.4:p.Gly309Cys
ENST00000355527.7:c.925G>T	ENSP00000347717.3:p.Gly309Cys
ENST00000407721.6:c.925G>T	ENSP00000384739.2:p.Gly309Cys
ENST00000525137.1:c.292G>T	ENSP00000435956.1:p.Gly98Cys
ENST00000533800.5:c.175G>T	ENSP00000435011.1:p.Gly59Cys
ENST00000534795.5:c.281G>T
NM_001163817.1:c.925G>T	NP_001157289.1:p.Gly309Cys
NM_001360.2:c.925G>T , LRG_340t1:c.925G>T	NP_001351.2:p.Gly309Cys
XM_011544777.1:c.925G>T	XP_011543079.1:p.Gly309Cys
XM_011544777.2:c.925G>T	XP_011543079.1:p.Gly309Cys
NM_001163817.2:c.925G>T	NP_001157289.1:p.Gly309Cys
NM_001360.3:c.925G>T MANE Select	NP_001351.2:p.Gly309Cys