Canonical Allele Identifier: CA274343

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 189069
• ClinVar RCV Id: RCV000169472 ; RCV001171660 ; RCV002453569
• dbSNP Id: rs779709646
• gnomAD v2: 11-71146710-C-T
• gnomAD v3: 11-71435664-C-T
• gnomAD v4: 11-71435664-C-T
• MyVariant Identifiers: chr11:g.71146710C>T (hg19) ; chr11:g.71435664C>T (hg38)
• PubMed: PMID:10677299 ; PMID:12070263 ; PMID:15896653 ; PMID:16983147 ; PMID:17497248 ; PMID:17994283

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435664C>T , CM000673.2:g.71435664C>T	GRCh38
NC_000011.9:g.71146710C>T , CM000673.1:g.71146710C>T	GRCh37
NC_000011.8:g.70824358C>T	NCBI36
NG_012655.2:g.17768G>A , LRG_340:g.17768G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1139G>A	ENSP00000435707.3:p.Cys380Tyr
ENST00000526780.6:c.1139G>A	ENSP00000435668.2:p.Cys380Tyr
ENST00000527316.6:c.965G>A	ENSP00000435047.2:p.Cys322Tyr
ENST00000682708.1:c.1190G>A	ENSP00000506866.1:p.Cys397Tyr
ENST00000683287.1:c.1175G>A	ENSP00000507607.1:p.Cys392Tyr
ENST00000683714.1:c.1147G>A	ENSP00000508207.1:p.Ala383Thr
ENST00000684396.1:n.1179G>A
ENST00000685320.1:c.554G>A	ENSP00000509319.1:p.Cys185Tyr
ENST00000690257.1:c.1043G>A	ENSP00000510750.1:p.Cys348Tyr
ENST00000355527.8:c.1139G>A MANE Select	ENSP00000347717.4:p.Cys380Tyr
ENST00000355527.7:c.1139G>A	ENSP00000347717.3:p.Cys380Tyr
ENST00000407721.6:c.1139G>A	ENSP00000384739.2:p.Cys380Tyr
ENST00000525137.1:c.640G>A	ENSP00000435956.1:p.Ala214Thr
ENST00000533800.5:c.389G>A	ENSP00000435011.1:p.Cys130Tyr
ENST00000534795.5:c.319+2148G>A
NM_001163817.1:c.1139G>A	NP_001157289.1:p.Cys380Tyr
NM_001360.2:c.1139G>A , LRG_340t1:c.1139G>A	NP_001351.2:p.Cys380Tyr
XM_011544777.1:c.1273G>A	XP_011543079.1:p.Ala425Thr
XM_011544777.2:c.1273G>A	XP_011543079.1:p.Ala425Thr
NM_001163817.2:c.1139G>A	NP_001157289.1:p.Cys380Tyr
NM_001360.3:c.1139G>A MANE Select	NP_001351.2:p.Cys380Tyr