Canonical Allele Identifier: CA253945
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 6784
ClinVar RCV Id: RCV000007186
dbSNP Id: rs104894213
MyVariant Identifiers: chr11:g.71152446C>T (hg19) chr11:g.71441400C>T (hg38)
PubMed: PMID:10677299 PMID:11078571 PMID:11175299 PMID:15521979 PMID:17965227
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71441400C>T , CM000673.2:g.71441400C>T GRCh38
NC_000011.9:g.71152446C>T , CM000673.1:g.71152446C>T GRCh37
NC_000011.8:g.70830094C>T NCBI36
NG_012655.2:g.12032G>A , LRG_340:g.12032G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000525346.6:c.453G>A ENSP00000435707.3:p.Trp151Ter
ENST00000526780.6:c.453G>A ENSP00000435668.2:p.Trp151Ter
ENST00000527316.6:c.279G>A ENSP00000435047.2:p.Trp93Ter
ENST00000682708.1:c.453G>A ENSP00000506866.1:p.Trp151Ter
ENST00000682880.1:c.453G>A ENSP00000507520.1:p.Trp151Ter
ENST00000683287.1:c.489G>A ENSP00000507607.1:p.Trp163Ter
ENST00000683714.1:c.453G>A ENSP00000508207.1:p.Trp151Ter
ENST00000683874.1:n.730G>A
ENST00000685320.1:c.-133G>A ENSP00000509319.1:n.-133G>A
ENST00000690257.1:c.357G>A ENSP00000510750.1:p.Trp119Ter
ENST00000355527.8:c.453G>A MANE Select ENSP00000347717.4:p.Trp151Ter
ENST00000355527.7:c.453G>A ENSP00000347717.3:p.Trp151Ter
ENST00000407721.6:c.453G>A ENSP00000384739.2:p.Trp151Ter
ENST00000526780.5:c.453G>A ENSP00000435668.1:p.Trp151Ter
ENST00000527316.5:c.357G>A ENSP00000435047.1:p.Trp119Ter
NM_001163817.1:c.453G>A NP_001157289.1:p.Trp151Ter
NM_001360.2:c.453G>A , LRG_340t1:c.453G>A NP_001351.2:p.Trp151Ter
XM_011544777.1:c.453G>A XP_011543079.1:p.Trp151Ter
XM_011544777.2:c.453G>A XP_011543079.1:p.Trp151Ter
NM_001163817.2:c.453G>A NP_001157289.1:p.Trp151Ter
NM_001360.3:c.453G>A MANE Select NP_001351.2:p.Trp151Ter
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