Canonical Allele Identifier: CA6162312

Gene: DHCR7

Linked Data

• dbSNP Id: rs765908713
• ExAC: 11:71146749 C / T
• gnomAD v2: 11-71146749-C-T
• gnomAD v3: 11-71435703-C-T
• gnomAD v4: 11-71435703-C-T
• COSMIC: COSM3452898 ; COSM3452899
• MyVariant Identifiers: chr11:g.71146749C>T (hg19) ; chr11:g.71435703C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435703C>T , CM000673.2:g.71435703C>T	GRCh38
NC_000011.9:g.71146749C>T , CM000673.1:g.71146749C>T	GRCh37
NC_000011.8:g.70824397C>T	NCBI36
NG_012655.2:g.17729G>A , LRG_340:g.17729G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1100G>A	ENSP00000435707.3:p.Arg367His
ENST00000526780.6:c.1100G>A	ENSP00000435668.2:p.Arg367His
ENST00000527316.6:c.926G>A	ENSP00000435047.2:p.Arg309His
ENST00000682708.1:c.1151G>A	ENSP00000506866.1:p.Arg384His
ENST00000683287.1:c.1136G>A	ENSP00000507607.1:p.Arg379His
ENST00000683714.1:c.1108G>A	ENSP00000508207.1:p.Ala370Thr
ENST00000684396.1:n.1140G>A
ENST00000685320.1:c.515G>A	ENSP00000509319.1:p.Arg172His
ENST00000690257.1:c.1004G>A	ENSP00000510750.1:p.Arg335His
ENST00000355527.8:c.1100G>A MANE Select	ENSP00000347717.4:p.Arg367His
ENST00000355527.7:c.1100G>A	ENSP00000347717.3:p.Arg367His
ENST00000407721.6:c.1100G>A	ENSP00000384739.2:p.Arg367His
ENST00000525137.1:c.601G>A	ENSP00000435956.1:p.Ala201Thr
ENST00000533800.5:c.350G>A	ENSP00000435011.1:p.Arg117His
ENST00000534795.5:c.319+2109G>A
NM_001163817.1:c.1100G>A	NP_001157289.1:p.Arg367His
NM_001360.2:c.1100G>A , LRG_340t1:c.1100G>A	NP_001351.2:p.Arg367His
XM_011544777.1:c.1234G>A	XP_011543079.1:p.Ala412Thr
XM_011544777.2:c.1234G>A	XP_011543079.1:p.Ala412Thr
NM_001163817.2:c.1100G>A	NP_001157289.1:p.Arg367His
NM_001360.3:c.1100G>A MANE Select	NP_001351.2:p.Arg367His