Canonical Allele Identifier: CA381702959

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1457935
• ClinVar RCV Id: RCV001972753
• dbSNP Id: rs2135941811
• MyVariant Identifiers: chr11:g.71148896C>T (hg19) ; chr11:g.71437850C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.925G>A	ENSP00000435707.3:p.Gly309Ser
ENST00000526780.6:c.925G>A	ENSP00000435668.2:p.Gly309Ser
ENST00000527316.6:c.751G>A	ENSP00000435047.2:p.Gly251Ser
ENST00000682708.1:c.976G>A	ENSP00000506866.1:p.Gly326Ser
ENST00000682880.1:c.925G>A	ENSP00000507520.1:p.Gly309Ser
ENST00000683287.1:c.961G>A	ENSP00000507607.1:p.Gly321Ser
ENST00000683714.1:c.925G>A	ENSP00000508207.1:p.Gly309Ser
ENST00000684396.1:n.965G>A
ENST00000685320.1:c.340G>A	ENSP00000509319.1:p.Gly114Ser
ENST00000690257.1:c.829G>A	ENSP00000510750.1:p.Gly277Ser
ENST00000355527.8:c.925G>A MANE Select	ENSP00000347717.4:p.Gly309Ser
ENST00000355527.7:c.925G>A	ENSP00000347717.3:p.Gly309Ser
ENST00000407721.6:c.925G>A	ENSP00000384739.2:p.Gly309Ser
ENST00000525137.1:c.292G>A	ENSP00000435956.1:p.Gly98Ser
ENST00000533800.5:c.175G>A	ENSP00000435011.1:p.Gly59Ser
ENST00000534795.5:c.281G>A
NM_001163817.1:c.925G>A	NP_001157289.1:p.Gly309Ser
NM_001360.2:c.925G>A , LRG_340t1:c.925G>A	NP_001351.2:p.Gly309Ser
XM_011544777.1:c.925G>A	XP_011543079.1:p.Gly309Ser
XM_011544777.2:c.925G>A	XP_011543079.1:p.Gly309Ser
NM_001163817.2:c.925G>A	NP_001157289.1:p.Gly309Ser
NM_001360.3:c.925G>A MANE Select	NP_001351.2:p.Gly309Ser