Canonical Allele Identifier: CA381694480

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 2137194
• ClinVar RCV Id: RCV003058338
• MyVariant Identifiers: chr11:g.71152366A>T (hg19) ; chr11:g.71441320A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71441320A>T , CM000673.2:g.71441320A>T	GRCh38
NC_000011.9:g.71152366A>T , CM000673.1:g.71152366A>T	GRCh37
NC_000011.8:g.70830014A>T	NCBI36
NG_012655.2:g.12112T>A , LRG_340:g.12112T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.533T>A	ENSP00000435707.3:p.Ile178Asn
ENST00000526780.6:c.533T>A	ENSP00000435668.2:p.Ile178Asn
ENST00000527316.6:c.359T>A	ENSP00000435047.2:p.Ile120Asn
ENST00000682708.1:c.533T>A	ENSP00000506866.1:p.Ile178Asn
ENST00000682880.1:c.533T>A	ENSP00000507520.1:p.Ile178Asn
ENST00000683287.1:c.569T>A	ENSP00000507607.1:p.Ile190Asn
ENST00000683714.1:c.533T>A	ENSP00000508207.1:p.Ile178Asn
ENST00000683874.1:n.810T>A
ENST00000685320.1:c.-53T>A	ENSP00000509319.1:n.-53T>A
ENST00000690257.1:c.437T>A	ENSP00000510750.1:p.Ile146Asn
ENST00000355527.8:c.533T>A MANE Select	ENSP00000347717.4:p.Ile178Asn
ENST00000355527.7:c.533T>A	ENSP00000347717.3:p.Ile178Asn
ENST00000407721.6:c.533T>A	ENSP00000384739.2:p.Ile178Asn
ENST00000527316.5:c.437T>A	ENSP00000435047.1:p.Ile146Asn
ENST00000534701.1:n.28T>A
NM_001163817.1:c.533T>A	NP_001157289.1:p.Ile178Asn
NM_001360.2:c.533T>A , LRG_340t1:c.533T>A	NP_001351.2:p.Ile178Asn
XM_011544777.1:c.533T>A	XP_011543079.1:p.Ile178Asn
XM_011544777.2:c.533T>A	XP_011543079.1:p.Ile178Asn
NM_001163817.2:c.533T>A	NP_001157289.1:p.Ile178Asn
NM_001360.3:c.533T>A MANE Select	NP_001351.2:p.Ile178Asn