Canonical Allele Identifier: CA381702809

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146994C>G (hg19) ; chr11:g.71435948C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435948C>G , CM000673.2:g.71435948C>G	GRCh38
NC_000011.9:g.71146994C>G , CM000673.1:g.71146994C>G	GRCh37
NC_000011.8:g.70824642C>G	NCBI36
NG_012655.2:g.17484G>C , LRG_340:g.17484G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.964-109G>C	ENSP00000435707.3:n.964-109G>C
ENST00000526780.6:c.964-109G>C	ENSP00000435668.2:n.964-109G>C
ENST00000527316.6:c.790-109G>C	ENSP00000435047.2:n.790-109G>C
ENST00000682708.1:c.1015-109G>C	ENSP00000506866.1:n.1015-109G>C
ENST00000683287.1:c.1000-109G>C	ENSP00000507607.1:n.1000-109G>C
ENST00000683714.1:c.972-109G>C	ENSP00000508207.1:n.972-109G>C
ENST00000684396.1:n.1004-109G>C
ENST00000685320.1:c.379-109G>C	ENSP00000509319.1:n.379-109G>C
ENST00000690257.1:c.868-109G>C	ENSP00000510750.1:n.868-109G>C
ENST00000355527.8:c.964-109G>C MANE Select	ENSP00000347717.4:n.964-109G>C
ENST00000355527.7:c.964-109G>C	ENSP00000347717.3:n.964-109G>C
ENST00000407721.6:c.964-109G>C	ENSP00000384739.2:n.964-109G>C
ENST00000525137.1:c.356G>C	ENSP00000435956.1:p.Cys119Ser
ENST00000533800.5:c.214-109G>C	ENSP00000435011.1:n.214-109G>C
ENST00000534795.5:c.319+1864G>C
NM_001163817.1:c.964-109G>C	NP_001157289.1:n.964-109G>C
NM_001360.2:c.964-109G>C , LRG_340t1:c.964-109G>C	NP_001351.2:n.964-109G>C
XM_011544777.1:c.989G>C	XP_011543079.1:p.Cys330Ser
XM_011544777.2:c.989G>C	XP_011543079.1:p.Cys330Ser
NM_001163817.2:c.964-109G>C	NP_001157289.1:n.964-109G>C
NM_001360.3:c.964-109G>C MANE Select	NP_001351.2:n.964-109G>C