Canonical Allele Identifier: CA6162417
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2071978
ClinVar RCV Id: RCV002949447
dbSNP Id: rs752010614

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71437940T>C , CM000673.2:g.71437940T>C GRCh38
NC_000011.9:g.71148986T>C , CM000673.1:g.71148986T>C GRCh37
NC_000011.8:g.70826634T>C NCBI36
NG_012655.2:g.15492A>G , LRG_340:g.15492A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000525346.6:c.835A>G ENSP00000435707.3:p.Ile279Val
ENST00000526780.6:c.835A>G ENSP00000435668.2:p.Ile279Val
ENST00000527316.6:c.661A>G ENSP00000435047.2:p.Ile221Val
ENST00000682708.1:c.886A>G ENSP00000506866.1:p.Ile296Val
ENST00000682880.1:c.835A>G ENSP00000507520.1:p.Ile279Val
ENST00000683287.1:c.871A>G ENSP00000507607.1:p.Ile291Val
ENST00000683714.1:c.835A>G ENSP00000508207.1:p.Ile279Val
ENST00000684396.1:n.875A>G
ENST00000685320.1:c.250A>G ENSP00000509319.1:p.Ile84Val
ENST00000690257.1:c.739A>G ENSP00000510750.1:p.Ile247Val
ENST00000355527.8:c.835A>G MANE Select ENSP00000347717.4:p.Ile279Val
ENST00000355527.7:c.835A>G ENSP00000347717.3:p.Ile279Val
ENST00000407721.6:c.835A>G ENSP00000384739.2:p.Ile279Val
ENST00000525137.1:c.202A>G ENSP00000435956.1:p.Ile68Val
ENST00000527316.5:c.739A>G ENSP00000435047.1:p.Ile247Val
ENST00000533800.5:c.85A>G ENSP00000435011.1:p.Ile29Val
ENST00000534795.5:c.191A>G
NM_001163817.1:c.835A>G NP_001157289.1:p.Ile279Val
NM_001360.2:c.835A>G , LRG_340t1:c.835A>G NP_001351.2:p.Ile279Val
XM_011544777.1:c.835A>G XP_011543079.1:p.Ile279Val
XM_011544777.2:c.835A>G XP_011543079.1:p.Ile279Val
NM_001163817.2:c.835A>G NP_001157289.1:p.Ile279Val
NM_001360.3:c.835A>G MANE Select NP_001351.2:p.Ile279Val