Canonical Allele Identifier: CA6162715

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1693399
• ClinVar RCV Id: RCV002260810 ; RCV003365718
• dbSNP Id: rs530687139
• ExAC: 11:71155928 G / T
• gnomAD v2: 11-71155928-G-T
• gnomAD v3: 11-71444882-G-T
• gnomAD v4: 11-71444882-G-T
• MyVariant Identifiers: chr11:g.71155928G>T (hg19) ; chr11:g.71444882G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444882G>T , CM000673.2:g.71444882G>T	GRCh38
NC_000011.9:g.71155928G>T , CM000673.1:g.71155928G>T	GRCh37
NC_000011.8:g.70833576G>T	NCBI36
NG_012655.2:g.8550C>A , LRG_340:g.8550C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.71C>A	ENSP00000435707.3:p.Ala24Glu
ENST00000526780.6:c.71C>A	ENSP00000435668.2:p.Ala24Glu
ENST00000527316.6:c.-175C>A	ENSP00000435047.2:n.-175C>A
ENST00000529990.6:c.-142C>A	ENSP00000435058.2:n.-142C>A
ENST00000682708.1:c.71C>A	ENSP00000506866.1:p.Ala24Glu
ENST00000682880.1:c.71C>A	ENSP00000507520.1:p.Ala24Glu
ENST00000683287.1:c.71C>A	ENSP00000507607.1:p.Ala24Glu
ENST00000683714.1:c.71C>A	ENSP00000508207.1:p.Ala24Glu
ENST00000683874.1:n.348C>A
ENST00000685320.1:c.-333-821C>A	ENSP00000509319.1:n.-333-821C>A
ENST00000690257.1:c.71C>A	ENSP00000510750.1:p.Ala24Glu
ENST00000355527.8:c.71C>A MANE Select	ENSP00000347717.4:p.Ala24Glu
ENST00000355527.7:c.71C>A	ENSP00000347717.3:p.Ala24Glu
ENST00000407721.6:c.71C>A	ENSP00000384739.2:p.Ala24Glu
ENST00000525346.5:c.71C>A	ENSP00000435707.2:p.Ala24Glu
ENST00000526780.5:c.71C>A	ENSP00000435668.1:p.Ala24Glu
ENST00000527316.5:c.71C>A	ENSP00000435047.1:p.Ala24Glu
ENST00000527452.1:c.71C>A	ENSP00000436007.1:p.Ala24Glu
ENST00000529990.5:c.-28C>A	ENSP00000435058.1:n.-28C>A
ENST00000531364.5:c.71C>A	ENSP00000432589.1:p.Ala24Glu
NM_001163817.1:c.71C>A	NP_001157289.1:p.Ala24Glu
NM_001360.2:c.71C>A , LRG_340t1:c.71C>A	NP_001351.2:p.Ala24Glu
XM_011544777.1:c.71C>A	XP_011543079.1:p.Ala24Glu
XM_011544777.2:c.71C>A	XP_011543079.1:p.Ala24Glu
NM_001163817.2:c.71C>A	NP_001157289.1:p.Ala24Glu
NM_001360.3:c.71C>A MANE Select	NP_001351.2:p.Ala24Glu