Canonical Allele Identifier: CA939371395

Gene: DHCR7

Linked Data

• dbSNP Id: rs1949251162
• gnomAD v3: 11-71434646-C-G
• gnomAD v4: 11-71434646-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71434646C>G , CM000673.2:g.71434646C>G	GRCh38
NC_000011.9:g.71145692C>G , CM000673.1:g.71145692C>G	GRCh37
NC_000011.8:g.70823340C>G	NCBI36
NG_012655.2:g.18786G>C , LRG_340:g.18786G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.*729G>C	ENSP00000435707.3:n.*729G>C
ENST00000526780.6:c.*729G>C	ENSP00000435668.2:n.*729G>C
ENST00000682708.1:c.*729G>C	ENSP00000506866.1:n.*729G>C
ENST00000683287.1:c.*729G>C	ENSP00000507607.1:n.*729G>C
ENST00000683714.1:c.*920G>C	ENSP00000508207.1:n.*920G>C
ENST00000684396.1:n.2197G>C
ENST00000685320.1:c.*729G>C	ENSP00000509319.1:n.*729G>C
ENST00000690257.1:c.*729G>C	ENSP00000510750.1:n.*729G>C
ENST00000355527.8:c.*729G>C MANE Select	ENSP00000347717.4:n.*729G>C
ENST00000355527.7:c.*729G>C	ENSP00000347717.3:n.*729G>C
ENST00000407721.6:c.*729G>C	ENSP00000384739.2:n.*729G>C
ENST00000534795.5:c.319+3166G>C
NM_001163817.1:c.*729G>C	NP_001157289.1:n.*729G>C
NM_001360.2:c.*729G>C , LRG_340t1:c.*729G>C	NP_001351.2:n.*729G>C
XM_011544777.1:c.*920G>C	XP_011543079.1:n.*920G>C
XM_011544777.2:c.*920G>C	XP_011543079.1:n.*920G>C
NM_001163817.2:c.*729G>C	NP_001157289.1:n.*729G>C
NM_001360.3:c.*729G>C MANE Select	NP_001351.2:n.*729G>C