Canonical Allele Identifier: CA2614856544

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71434655-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71434655A>C , CM000673.2:g.71434655A>C	GRCh38
NC_000011.9:g.71145701A>C , CM000673.1:g.71145701A>C	GRCh37
NC_000011.8:g.70823349A>C	NCBI36
NG_012655.2:g.18777T>G , LRG_340:g.18777T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.*720T>G	ENSP00000435707.3:n.*720T>G
ENST00000526780.6:c.*720T>G	ENSP00000435668.2:n.*720T>G
ENST00000682708.1:c.*720T>G	ENSP00000506866.1:n.*720T>G
ENST00000683287.1:c.*720T>G	ENSP00000507607.1:n.*720T>G
ENST00000683714.1:c.*911T>G	ENSP00000508207.1:n.*911T>G
ENST00000684396.1:n.2188T>G
ENST00000685320.1:c.*720T>G	ENSP00000509319.1:n.*720T>G
ENST00000690257.1:c.*720T>G	ENSP00000510750.1:n.*720T>G
ENST00000355527.8:c.*720T>G MANE Select	ENSP00000347717.4:n.*720T>G
ENST00000355527.7:c.*720T>G	ENSP00000347717.3:n.*720T>G
ENST00000407721.6:c.*720T>G	ENSP00000384739.2:n.*720T>G
ENST00000534795.5:c.319+3157T>G
NM_001163817.1:c.*720T>G	NP_001157289.1:n.*720T>G
NM_001360.2:c.*720T>G , LRG_340t1:c.*720T>G	NP_001351.2:n.*720T>G
XM_011544777.1:c.*911T>G	XP_011543079.1:n.*911T>G
XM_011544777.2:c.*911T>G	XP_011543079.1:n.*911T>G
NM_001163817.2:c.*720T>G	NP_001157289.1:n.*720T>G
NM_001360.3:c.*720T>G MANE Select	NP_001351.2:n.*720T>G