Canonical Allele Identifier: CA6162407

Gene: DHCR7

Linked Data

• dbSNP Id: rs201574502
• ExAC: 11:71148938 T / C
• gnomAD v2: 11-71148938-T-C
• gnomAD v3: 11-71437892-T-C
• gnomAD v4: 11-71437892-T-C
• MyVariant Identifiers: chr11:g.71148938T>C (hg19) ; chr11:g.71437892T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437892T>C , CM000673.2:g.71437892T>C	GRCh38
NC_000011.9:g.71148938T>C , CM000673.1:g.71148938T>C	GRCh37
NC_000011.8:g.70826586T>C	NCBI36
NG_012655.2:g.15540A>G , LRG_340:g.15540A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.883A>G	ENSP00000435707.3:p.Ile295Val
ENST00000526780.6:c.883A>G	ENSP00000435668.2:p.Ile295Val
ENST00000527316.6:c.709A>G	ENSP00000435047.2:p.Ile237Val
ENST00000682708.1:c.934A>G	ENSP00000506866.1:p.Ile312Val
ENST00000682880.1:c.883A>G	ENSP00000507520.1:p.Ile295Val
ENST00000683287.1:c.919A>G	ENSP00000507607.1:p.Ile307Val
ENST00000683714.1:c.883A>G	ENSP00000508207.1:p.Ile295Val
ENST00000684396.1:n.923A>G
ENST00000685320.1:c.298A>G	ENSP00000509319.1:p.Ile100Val
ENST00000690257.1:c.787A>G	ENSP00000510750.1:p.Ile263Val
ENST00000355527.8:c.883A>G MANE Select	ENSP00000347717.4:p.Ile295Val
ENST00000355527.7:c.883A>G	ENSP00000347717.3:p.Ile295Val
ENST00000407721.6:c.883A>G	ENSP00000384739.2:p.Ile295Val
ENST00000525137.1:c.250A>G	ENSP00000435956.1:p.Ile84Val
ENST00000533800.5:c.133A>G	ENSP00000435011.1:p.Ile45Val
ENST00000534795.5:c.239A>G
NM_001163817.1:c.883A>G	NP_001157289.1:p.Ile295Val
NM_001360.2:c.883A>G , LRG_340t1:c.883A>G	NP_001351.2:p.Ile295Val
XM_011544777.1:c.883A>G	XP_011543079.1:p.Ile295Val
XM_011544777.2:c.883A>G	XP_011543079.1:p.Ile295Val
NM_001163817.2:c.883A>G	NP_001157289.1:p.Ile295Val
NM_001360.3:c.883A>G MANE Select	NP_001351.2:p.Ile295Val