Canonical Allele Identifier: CA381695102
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1731818
ClinVar RCV Id: RCV002337514
dbSNP Id: rs1949358044

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71442328T>C , CM000673.2:g.71442328T>C GRCh38
NC_000011.9:g.71153374T>C , CM000673.1:g.71153374T>C GRCh37
NC_000011.8:g.70831022T>C NCBI36
NG_012655.2:g.11104A>G , LRG_340:g.11104A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000525346.6:c.347A>G ENSP00000435707.3:p.Asp116Gly
ENST00000526780.6:c.347A>G ENSP00000435668.2:p.Asp116Gly
ENST00000527316.6:c.173A>G ENSP00000435047.2:p.Asp58Gly
ENST00000682708.1:c.347A>G ENSP00000506866.1:p.Asp116Gly
ENST00000682880.1:c.347A>G ENSP00000507520.1:p.Asp116Gly
ENST00000683287.1:c.383A>G ENSP00000507607.1:p.Asp128Gly
ENST00000683714.1:c.347A>G ENSP00000508207.1:p.Asp116Gly
ENST00000683874.1:n.624A>G
ENST00000685320.1:c.-239A>G ENSP00000509319.1:n.-239A>G
ENST00000690257.1:c.251A>G ENSP00000510750.1:p.Asp84Gly
ENST00000355527.8:c.347A>G MANE Select ENSP00000347717.4:p.Asp116Gly
ENST00000355527.7:c.347A>G ENSP00000347717.3:p.Asp116Gly
ENST00000407721.6:c.347A>G ENSP00000384739.2:p.Asp116Gly
ENST00000526780.5:c.347A>G ENSP00000435668.1:p.Asp116Gly
ENST00000527316.5:c.251A>G ENSP00000435047.1:p.Asp84Gly
NM_001163817.1:c.347A>G NP_001157289.1:p.Asp116Gly
NM_001360.2:c.347A>G , LRG_340t1:c.347A>G NP_001351.2:p.Asp116Gly
XM_011544777.1:c.347A>G XP_011543079.1:p.Asp116Gly
XM_011544777.2:c.347A>G XP_011543079.1:p.Asp116Gly
NM_001163817.2:c.347A>G NP_001157289.1:p.Asp116Gly
NM_001360.3:c.347A>G MANE Select NP_001351.2:p.Asp116Gly