Canonical Allele Identifier: CA6162396

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1148980
• ClinVar RCV Id: RCV001489058 ; RCV001820188
• dbSNP Id: rs200157761
• ExAC: 11:71148864 C / A
• gnomAD v2: 11-71148864-C-A
• gnomAD v3: 11-71437818-C-A
• gnomAD v4: 11-71437818-C-A
• MyVariant Identifiers: chr11:g.71148864C>A (hg19) ; chr11:g.71437818C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437818C>A , CM000673.2:g.71437818C>A	GRCh38
NC_000011.9:g.71148864C>A , CM000673.1:g.71148864C>A	GRCh37
NC_000011.8:g.70826512C>A	NCBI36
NG_012655.2:g.15614G>T , LRG_340:g.15614G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.957G>T	ENSP00000435707.3:p.Thr319=
ENST00000526780.6:c.957G>T	ENSP00000435668.2:p.Thr319=
ENST00000527316.6:c.783G>T	ENSP00000435047.2:p.Thr261=
ENST00000682708.1:c.1008G>T	ENSP00000506866.1:p.Thr336=
ENST00000682880.1:c.957G>T	ENSP00000507520.1:p.Thr319=
ENST00000683287.1:c.993G>T	ENSP00000507607.1:p.Thr331=
ENST00000683714.1:c.957G>T	ENSP00000508207.1:p.Thr319=
ENST00000684396.1:n.997G>T
ENST00000685320.1:c.372G>T	ENSP00000509319.1:p.Thr124=
ENST00000690257.1:c.861G>T	ENSP00000510750.1:p.Thr287=
ENST00000355527.8:c.957G>T MANE Select	ENSP00000347717.4:p.Thr319=
ENST00000355527.7:c.957G>T	ENSP00000347717.3:p.Thr319=
ENST00000407721.6:c.957G>T	ENSP00000384739.2:p.Thr319=
ENST00000525137.1:c.324G>T	ENSP00000435956.1:p.Thr108=
ENST00000533800.5:c.207G>T	ENSP00000435011.1:p.Thr69=
ENST00000534795.5:c.313G>T
NM_001163817.1:c.957G>T	NP_001157289.1:p.Thr319=
NM_001360.2:c.957G>T , LRG_340t1:c.957G>T	NP_001351.2:p.Thr319=
XM_011544777.1:c.957G>T	XP_011543079.1:p.Thr319=
XM_011544777.2:c.957G>T	XP_011543079.1:p.Thr319=
NM_001163817.2:c.957G>T	NP_001157289.1:p.Thr319=
NM_001360.3:c.957G>T MANE Select	NP_001351.2:p.Thr319=