Canonical Allele Identifier: CA381703152
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1723322
ClinVar RCV Id: RCV002308598

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71437933A>G , CM000673.2:g.71437933A>G GRCh38
NC_000011.9:g.71148979A>G , CM000673.1:g.71148979A>G GRCh37
NC_000011.8:g.70826627A>G NCBI36
NG_012655.2:g.15499T>C , LRG_340:g.15499T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525346.6:c.842T>C ENSP00000435707.3:p.Val281Ala
ENST00000526780.6:c.842T>C ENSP00000435668.2:p.Val281Ala
ENST00000527316.6:c.668T>C ENSP00000435047.2:p.Val223Ala
ENST00000682708.1:c.893T>C ENSP00000506866.1:p.Val298Ala
ENST00000682880.1:c.842T>C ENSP00000507520.1:p.Val281Ala
ENST00000683287.1:c.878T>C ENSP00000507607.1:p.Val293Ala
ENST00000683714.1:c.842T>C ENSP00000508207.1:p.Val281Ala
ENST00000684396.1:n.882T>C
ENST00000685320.1:c.257T>C ENSP00000509319.1:p.Val86Ala
ENST00000690257.1:c.746T>C ENSP00000510750.1:p.Val249Ala
ENST00000355527.8:c.842T>C MANE Select ENSP00000347717.4:p.Val281Ala
ENST00000355527.7:c.842T>C ENSP00000347717.3:p.Val281Ala
ENST00000407721.6:c.842T>C ENSP00000384739.2:p.Val281Ala
ENST00000525137.1:c.209T>C ENSP00000435956.1:p.Val70Ala
ENST00000527316.5:c.746T>C ENSP00000435047.1:p.Val249Ala
ENST00000533800.5:c.92T>C ENSP00000435011.1:p.Val31Ala
ENST00000534795.5:c.198T>C
NM_001163817.1:c.842T>C NP_001157289.1:p.Val281Ala
NM_001360.2:c.842T>C , LRG_340t1:c.842T>C NP_001351.2:p.Val281Ala
XM_011544777.1:c.842T>C XP_011543079.1:p.Val281Ala
XM_011544777.2:c.842T>C XP_011543079.1:p.Val281Ala
NM_001163817.2:c.842T>C NP_001157289.1:p.Val281Ala
NM_001360.3:c.842T>C MANE Select NP_001351.2:p.Val281Ala