Canonical Allele Identifier: CA253952

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 6795
• ClinVar RCV Id: RCV000007197 ; RCV000254828
• dbSNP Id: rs121909768
• ExAC: 11:71146794 C / T
• gnomAD v2: 11-71146794-C-T
• gnomAD v3: 11-71435748-C-T
• gnomAD v4: 11-71435748-C-T
• MyVariant Identifiers: chr11:g.71146794C>T (hg19) ; chr11:g.71435748C>T (hg38)
• PubMed: PMID:10677299 ; PMID:16044199 ; PMID:17441222 ; PMID:20556518 ; PMID:21696385 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435748C>T , CM000673.2:g.71435748C>T	GRCh38
NC_000011.9:g.71146794C>T , CM000673.1:g.71146794C>T	GRCh37
NC_000011.8:g.70824442C>T	NCBI36
NG_012655.2:g.17684G>A , LRG_340:g.17684G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1055G>A	ENSP00000435707.3:p.Arg352Gln
ENST00000526780.6:c.1055G>A	ENSP00000435668.2:p.Arg352Gln
ENST00000527316.6:c.881G>A	ENSP00000435047.2:p.Arg294Gln
ENST00000682708.1:c.1106G>A	ENSP00000506866.1:p.Arg369Gln
ENST00000683287.1:c.1091G>A	ENSP00000507607.1:p.Arg364Gln
ENST00000683714.1:c.1063G>A	ENSP00000508207.1:p.Gly355Arg
ENST00000684396.1:n.1095G>A
ENST00000685320.1:c.470G>A	ENSP00000509319.1:p.Arg157Gln
ENST00000690257.1:c.959G>A	ENSP00000510750.1:p.Arg320Gln
ENST00000355527.8:c.1055G>A MANE Select	ENSP00000347717.4:p.Arg352Gln
ENST00000355527.7:c.1055G>A	ENSP00000347717.3:p.Arg352Gln
ENST00000407721.6:c.1055G>A	ENSP00000384739.2:p.Arg352Gln
ENST00000525137.1:c.556G>A	ENSP00000435956.1:p.Gly186Arg
ENST00000533800.5:c.305G>A	ENSP00000435011.1:p.Arg102Gln
ENST00000534795.5:c.319+2064G>A
NM_001163817.1:c.1055G>A	NP_001157289.1:p.Arg352Gln
NM_001360.2:c.1055G>A , LRG_340t1:c.1055G>A	NP_001351.2:p.Arg352Gln
XM_011544777.1:c.1189G>A	XP_011543079.1:p.Gly397Arg
XM_011544777.2:c.1189G>A	XP_011543079.1:p.Gly397Arg
NM_001163817.2:c.1055G>A	NP_001157289.1:p.Arg352Gln
NM_001360.3:c.1055G>A MANE Select	NP_001351.2:p.Arg352Gln