Canonical Allele Identifier: CA6162305
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 284527
dbSNP Id: rs373306653

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71435665A>G , CM000673.2:g.71435665A>G GRCh38
NC_000011.9:g.71146711A>G , CM000673.1:g.71146711A>G GRCh37
NC_000011.8:g.70824359A>G NCBI36
NG_012655.2:g.17767T>C , LRG_340:g.17767T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525346.6:c.1138T>C ENSP00000435707.3:p.Cys380Arg
ENST00000526780.6:c.1138T>C ENSP00000435668.2:p.Cys380Arg
ENST00000527316.6:c.964T>C ENSP00000435047.2:p.Cys322Arg
ENST00000682708.1:c.1189T>C ENSP00000506866.1:p.Cys397Arg
ENST00000683287.1:c.1174T>C ENSP00000507607.1:p.Cys392Arg
ENST00000683714.1:c.1146T>C ENSP00000508207.1:p.Ser382=
ENST00000684396.1:n.1178T>C
ENST00000685320.1:c.553T>C ENSP00000509319.1:p.Cys185Arg
ENST00000690257.1:c.1042T>C ENSP00000510750.1:p.Cys348Arg
ENST00000355527.8:c.1138T>C MANE Select ENSP00000347717.4:p.Cys380Arg
ENST00000355527.7:c.1138T>C ENSP00000347717.3:p.Cys380Arg
ENST00000407721.6:c.1138T>C ENSP00000384739.2:p.Cys380Arg
ENST00000525137.1:c.639T>C ENSP00000435956.1:p.Ser213=
ENST00000533800.5:c.388T>C ENSP00000435011.1:p.Cys130Arg
ENST00000534795.5:c.319+2147T>C
NM_001163817.1:c.1138T>C NP_001157289.1:p.Cys380Arg
NM_001360.2:c.1138T>C , LRG_340t1:c.1138T>C NP_001351.2:p.Cys380Arg
XM_011544777.1:c.1272T>C XP_011543079.1:p.Ser424=
XM_011544777.2:c.1272T>C XP_011543079.1:p.Ser424=
NM_001163817.2:c.1138T>C NP_001157289.1:p.Cys380Arg
NM_001360.3:c.1138T>C MANE Select NP_001351.2:p.Cys380Arg