Canonical Allele Identifier: CA381700921

Gene: DHCR7

Linked Data

• dbSNP Id: rs1382147285
• gnomAD v2: 11-71146540-C-T
• gnomAD v4: 11-71435494-C-T
• MyVariant Identifiers: chr11:g.71146540C>T (hg19) ; chr11:g.71435494C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435494C>T , CM000673.2:g.71435494C>T	GRCh38
NC_000011.9:g.71146540C>T , CM000673.1:g.71146540C>T	GRCh37
NC_000011.8:g.70824188C>T	NCBI36
NG_012655.2:g.17938G>A , LRG_340:g.17938G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1309G>A	ENSP00000435707.3:p.Ala437Thr
ENST00000526780.6:c.1309G>A	ENSP00000435668.2:p.Ala437Thr
ENST00000527316.6:c.1135G>A	ENSP00000435047.2:p.Ala379Thr
ENST00000682708.1:c.1360G>A	ENSP00000506866.1:p.Ala454Thr
ENST00000683287.1:c.1345G>A	ENSP00000507607.1:p.Ala449Thr
ENST00000683714.1:c.*72G>A	ENSP00000508207.1:n.*72G>A
ENST00000684396.1:n.1349G>A
ENST00000685320.1:c.724G>A	ENSP00000509319.1:p.Ala242Thr
ENST00000690257.1:c.1213G>A	ENSP00000510750.1:p.Ala405Thr
ENST00000355527.8:c.1309G>A MANE Select	ENSP00000347717.4:p.Ala437Thr
ENST00000355527.7:c.1309G>A	ENSP00000347717.3:p.Ala437Thr
ENST00000407721.6:c.1309G>A	ENSP00000384739.2:p.Ala437Thr
ENST00000525137.1:c.810G>A	ENSP00000435956.1:n.810G>A
ENST00000533800.5:c.559G>A	ENSP00000435011.1:p.Ala187Thr
ENST00000534795.5:c.319+2318G>A
NM_001163817.1:c.1309G>A	NP_001157289.1:p.Ala437Thr
NM_001360.2:c.1309G>A , LRG_340t1:c.1309G>A	NP_001351.2:p.Ala437Thr
XM_011544777.1:c.*72G>A	XP_011543079.1:n.*72G>A
XM_011544777.2:c.*72G>A	XP_011543079.1:n.*72G>A
NM_001163817.2:c.1309G>A	NP_001157289.1:p.Ala437Thr
NM_001360.3:c.1309G>A MANE Select	NP_001351.2:p.Ala437Thr