Canonical Allele Identifier: CA939371386

Gene: DHCR7

Linked Data

• dbSNP Id: rs1949251117
• gnomAD v3: 11-71434642-A-C
• gnomAD v4: 11-71434642-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71434642A>C , CM000673.2:g.71434642A>C	GRCh38
NC_000011.9:g.71145688A>C , CM000673.1:g.71145688A>C	GRCh37
NC_000011.8:g.70823336A>C	NCBI36
NG_012655.2:g.18790T>G , LRG_340:g.18790T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.*733T>G	ENSP00000435707.3:n.*733T>G
ENST00000526780.6:c.*733T>G	ENSP00000435668.2:n.*733T>G
ENST00000682708.1:c.*733T>G	ENSP00000506866.1:n.*733T>G
ENST00000683287.1:c.*733T>G	ENSP00000507607.1:n.*733T>G
ENST00000683714.1:c.*924T>G	ENSP00000508207.1:n.*924T>G
ENST00000684396.1:n.2201T>G
ENST00000685320.1:c.*733T>G	ENSP00000509319.1:n.*733T>G
ENST00000690257.1:c.*733T>G	ENSP00000510750.1:n.*733T>G
ENST00000355527.8:c.*733T>G MANE Select	ENSP00000347717.4:n.*733T>G
ENST00000355527.7:c.*733T>G	ENSP00000347717.3:n.*733T>G
ENST00000407721.6:c.*733T>G	ENSP00000384739.2:n.*733T>G
ENST00000534795.5:c.319+3170T>G
NM_001163817.1:c.*733T>G	NP_001157289.1:n.*733T>G
NM_001360.2:c.*733T>G , LRG_340t1:c.*733T>G	NP_001351.2:n.*733T>G
XM_011544777.1:c.*924T>G	XP_011543079.1:n.*924T>G
XM_011544777.2:c.*924T>G	XP_011543079.1:n.*924T>G
NM_001163817.2:c.*733T>G	NP_001157289.1:n.*733T>G
NM_001360.3:c.*733T>G MANE Select	NP_001351.2:n.*733T>G