Canonical Allele Identifier: CA6162602

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1104983
• ClinVar RCV Id: RCV001429201
• dbSNP Id: rs373452254
• ExAC: 11:71153352 G / C
• gnomAD v2: 11-71153352-G-C
• gnomAD v3: 11-71442306-G-C
• gnomAD v4: 11-71442306-G-C
• MyVariant Identifiers: chr11:g.71153352G>C (hg19) ; chr11:g.71442306G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71442306G>C , CM000673.2:g.71442306G>C	GRCh38
NC_000011.9:g.71153352G>C , CM000673.1:g.71153352G>C	GRCh37
NC_000011.8:g.70831000G>C	NCBI36
NG_012655.2:g.11126C>G , LRG_340:g.11126C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.369C>G	ENSP00000435707.3:p.Pro123=
ENST00000526780.6:c.369C>G	ENSP00000435668.2:p.Pro123=
ENST00000527316.6:c.195C>G	ENSP00000435047.2:p.Pro65=
ENST00000682708.1:c.369C>G	ENSP00000506866.1:p.Pro123=
ENST00000682880.1:c.369C>G	ENSP00000507520.1:p.Pro123=
ENST00000683287.1:c.405C>G	ENSP00000507607.1:p.Pro135=
ENST00000683714.1:c.369C>G	ENSP00000508207.1:p.Pro123=
ENST00000683874.1:n.646C>G
ENST00000685320.1:c.-217C>G	ENSP00000509319.1:n.-217C>G
ENST00000690257.1:c.273C>G	ENSP00000510750.1:p.Pro91=
ENST00000355527.8:c.369C>G MANE Select	ENSP00000347717.4:p.Pro123=
ENST00000355527.7:c.369C>G	ENSP00000347717.3:p.Pro123=
ENST00000407721.6:c.369C>G	ENSP00000384739.2:p.Pro123=
ENST00000526780.5:c.369C>G	ENSP00000435668.1:p.Pro123=
ENST00000527316.5:c.273C>G	ENSP00000435047.1:p.Pro91=
NM_001163817.1:c.369C>G	NP_001157289.1:p.Pro123=
NM_001360.2:c.369C>G , LRG_340t1:c.369C>G	NP_001351.2:p.Pro123=
XM_011544777.1:c.369C>G	XP_011543079.1:p.Pro123=
XM_011544777.2:c.369C>G	XP_011543079.1:p.Pro123=
NM_001163817.2:c.369C>G	NP_001157289.1:p.Pro123=
NM_001360.3:c.369C>G MANE Select	NP_001351.2:p.Pro123=