Canonical Allele Identifier: CA221656

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 93711
• ClinVar RCV Id: RCV000079645 ; RCV000411557
• dbSNP Id: rs201270451
• gnomAD v4: 11-71435419-A-G
• MyVariant Identifiers: chr11:g.71146465A>G (hg19) ; chr11:g.71435419A>G (hg38)
• PubMed: PMID:10814720 ; PMID:22391996 ; PMID:24500076

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435419A>G , CM000673.2:g.71435419A>G	GRCh38
NC_000011.9:g.71146465A>G , CM000673.1:g.71146465A>G	GRCh37
NC_000011.8:g.70824113A>G	NCBI36
NG_012655.2:g.18013T>C , LRG_340:g.18013T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1384T>C	ENSP00000435707.3:p.Tyr462His
ENST00000526780.6:c.1384T>C	ENSP00000435668.2:p.Tyr462His
ENST00000527316.6:c.1210T>C	ENSP00000435047.2:p.Tyr404His
ENST00000682708.1:c.1435T>C	ENSP00000506866.1:p.Tyr479His
ENST00000683287.1:c.1420T>C	ENSP00000507607.1:p.Tyr474His
ENST00000683714.1:c.*147T>C	ENSP00000508207.1:n.*147T>C
ENST00000684396.1:n.1424T>C
ENST00000685320.1:c.799T>C	ENSP00000509319.1:p.Tyr267His
ENST00000690257.1:c.1288T>C	ENSP00000510750.1:p.Tyr430His
ENST00000355527.8:c.1384T>C MANE Select	ENSP00000347717.4:p.Tyr462His
ENST00000355527.7:c.1384T>C	ENSP00000347717.3:p.Tyr462His
ENST00000407721.6:c.1384T>C	ENSP00000384739.2:p.Tyr462His
ENST00000525137.1:c.885T>C	ENSP00000435956.1:n.885T>C
ENST00000533800.5:c.611+23T>C	ENSP00000435011.1:n.611+23T>C
ENST00000534795.5:c.319+2393T>C
NM_001163817.1:c.1384T>C	NP_001157289.1:p.Tyr462His
NM_001360.2:c.1384T>C , LRG_340t1:c.1384T>C	NP_001351.2:p.Tyr462His
XM_011544777.1:c.*147T>C	XP_011543079.1:n.*147T>C
XM_011544777.2:c.*147T>C	XP_011543079.1:n.*147T>C
NM_001163817.2:c.1384T>C	NP_001157289.1:p.Tyr462His
NM_001360.3:c.1384T>C MANE Select	NP_001351.2:p.Tyr462His