Canonical Allele Identifier: CA475520468

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1120321
• ClinVar RCV Id: RCV001450212
• dbSNP Id: rs1316013264
• gnomAD v2: 11-71155123-A-G
• gnomAD v4: 11-71444077-A-G
• MyVariant Identifiers: chr11:g.71155123A>G (hg19) ; chr11:g.71444077A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444077A>G , CM000673.2:g.71444077A>G	GRCh38
NC_000011.9:g.71155123A>G , CM000673.1:g.71155123A>G	GRCh37
NC_000011.8:g.70832771A>G	NCBI36
NG_012655.2:g.9355T>C , LRG_340:g.9355T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.237T>C	ENSP00000435707.3:p.His79=
ENST00000526780.6:c.237T>C	ENSP00000435668.2:p.His79=
ENST00000527316.6:c.63T>C	ENSP00000435047.2:p.His21=
ENST00000529990.6:c.63T>C	ENSP00000435058.2:p.His21=
ENST00000682708.1:c.237T>C	ENSP00000506866.1:p.His79=
ENST00000682880.1:c.237T>C	ENSP00000507520.1:p.His79=
ENST00000683287.1:c.237T>C	ENSP00000507607.1:p.His79=
ENST00000683714.1:c.237T>C	ENSP00000508207.1:p.His79=
ENST00000683874.1:n.514T>C
ENST00000685320.1:c.-333-16T>C	ENSP00000509319.1:n.-333-16T>C
ENST00000690257.1:c.141T>C	ENSP00000510750.1:p.His47=
ENST00000355527.8:c.237T>C MANE Select	ENSP00000347717.4:p.His79=
ENST00000355527.7:c.237T>C	ENSP00000347717.3:p.His79=
ENST00000407721.6:c.237T>C	ENSP00000384739.2:p.His79=
ENST00000525346.5:c.237T>C	ENSP00000435707.2:p.His79=
ENST00000526780.5:c.237T>C	ENSP00000435668.1:p.His79=
ENST00000527316.5:c.141T>C	ENSP00000435047.1:p.His47=
ENST00000527452.1:c.237T>C	ENSP00000436007.1:p.His79=
ENST00000529990.5:c.177T>C	ENSP00000435058.1:p.His59=
ENST00000531364.5:c.237T>C	ENSP00000432589.1:p.His79=
NM_001163817.1:c.237T>C	NP_001157289.1:p.His79=
NM_001360.2:c.237T>C , LRG_340t1:c.237T>C	NP_001351.2:p.His79=
XM_011544777.1:c.237T>C	XP_011543079.1:p.His79=
XM_011544777.2:c.237T>C	XP_011543079.1:p.His79=
NM_001163817.2:c.237T>C	NP_001157289.1:p.His79=
NM_001360.3:c.237T>C MANE Select	NP_001351.2:p.His79=