Canonical Allele Identifier: CA381696613

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 2383544
• ClinVar RCV Id: RCV002703613
• dbSNP Id: rs1231628274
• gnomAD v2: 11-71155191-A-C
• gnomAD v3: 11-71444145-A-C
• gnomAD v4: 11-71444145-A-C
• MyVariant Identifiers: chr11:g.71155191A>C (hg19) ; chr11:g.71444145A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444145A>C , CM000673.2:g.71444145A>C	GRCh38
NC_000011.9:g.71155191A>C , CM000673.1:g.71155191A>C	GRCh37
NC_000011.8:g.70832839A>C	NCBI36
NG_012655.2:g.9287T>G , LRG_340:g.9287T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.169T>G	ENSP00000435707.3:p.Phe57Val
ENST00000526780.6:c.169T>G	ENSP00000435668.2:p.Phe57Val
ENST00000527316.6:c.-6T>G	ENSP00000435047.2:n.-6T>G
ENST00000529990.6:c.-6T>G	ENSP00000435058.2:n.-6T>G
ENST00000682708.1:c.169T>G	ENSP00000506866.1:p.Phe57Val
ENST00000682880.1:c.169T>G	ENSP00000507520.1:p.Phe57Val
ENST00000683287.1:c.169T>G	ENSP00000507607.1:p.Phe57Val
ENST00000683714.1:c.169T>G	ENSP00000508207.1:p.Phe57Val
ENST00000683874.1:n.446T>G
ENST00000685320.1:c.-333-84T>G	ENSP00000509319.1:n.-333-84T>G
ENST00000690257.1:c.99-26T>G	ENSP00000510750.1:n.99-26T>G
ENST00000355527.8:c.169T>G MANE Select	ENSP00000347717.4:p.Phe57Val
ENST00000355527.7:c.169T>G	ENSP00000347717.3:p.Phe57Val
ENST00000407721.6:c.169T>G	ENSP00000384739.2:p.Phe57Val
ENST00000525346.5:c.169T>G	ENSP00000435707.2:p.Phe57Val
ENST00000526780.5:c.169T>G	ENSP00000435668.1:p.Phe57Val
ENST00000527316.5:c.99-26T>G	ENSP00000435047.1:n.99-26T>G
ENST00000527452.1:c.169T>G	ENSP00000436007.1:p.Phe57Val
ENST00000529990.5:c.109T>G	ENSP00000435058.1:p.Phe37Val
ENST00000531364.5:c.169T>G	ENSP00000432589.1:p.Phe57Val
NM_001163817.1:c.169T>G	NP_001157289.1:p.Phe57Val
NM_001360.2:c.169T>G , LRG_340t1:c.169T>G	NP_001351.2:p.Phe57Val
XM_011544777.1:c.169T>G	XP_011543079.1:p.Phe57Val
XM_011544777.2:c.169T>G	XP_011543079.1:p.Phe57Val
NM_001163817.2:c.169T>G	NP_001157289.1:p.Phe57Val
NM_001360.3:c.169T>G MANE Select	NP_001351.2:p.Phe57Val