Canonical Allele Identifier: CA118516
Gene: DHCR7 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6794
dbSNP Id: rs104886033

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71444952T>C , CM000673.2:g.71444952T>C GRCh38
NC_000011.9:g.71155998T>C , CM000673.1:g.71155998T>C GRCh37
NC_000011.8:g.70833646T>C NCBI36
NG_012655.2:g.8480A>G , LRG_340:g.8480A>G

Transcript Alleles

HGVS Amino-acid change
NM_001163817.1:c.1A>G VV
NM_001360.2:c.1A>G , LRG_340t1:c.1A>G
XM_011544777.1:c.1A>G
XM_011544777.2:c.1A>G
ENST00000355527.7:c.1A>G
ENST00000407721.6:c.1A>G
ENST00000525346.5:c.1A>G
ENST00000526780.5:c.1A>G
ENST00000527316.5:c.1A>G
ENST00000527452.1:c.1A>G
ENST00000529990.5:c.-98A>G ENSP00000435058.1:p.=
ENST00000531364.5:c.1A>G