Canonical Allele Identifier: CA6162734

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1666157
• ClinVar RCV Id: RCV002186179
• dbSNP Id: rs757934834
• ExAC: 11:71155987 T / C
• gnomAD v2: 11-71155987-T-C
• MyVariant Identifiers: chr11:g.71155987T>C (hg19) ; chr11:g.71444941T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444941T>C , CM000673.2:g.71444941T>C	GRCh38
NC_000011.9:g.71155987T>C , CM000673.1:g.71155987T>C	GRCh37
NC_000011.8:g.70833635T>C	NCBI36
NG_012655.2:g.8491A>G , LRG_340:g.8491A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.12A>G	ENSP00000435707.3:p.Lys4=
ENST00000526780.6:c.12A>G	ENSP00000435668.2:p.Lys4=
ENST00000527316.6:c.-234A>G	ENSP00000435047.2:n.-234A>G
ENST00000529990.6:c.-201A>G	ENSP00000435058.2:n.-201A>G
ENST00000682708.1:c.12A>G	ENSP00000506866.1:p.Lys4=
ENST00000682880.1:c.12A>G	ENSP00000507520.1:p.Lys4=
ENST00000683287.1:c.12A>G	ENSP00000507607.1:p.Lys4=
ENST00000683714.1:c.12A>G	ENSP00000508207.1:p.Lys4=
ENST00000683874.1:n.289A>G
ENST00000685320.1:c.-333-880A>G	ENSP00000509319.1:n.-333-880A>G
ENST00000690257.1:c.12A>G	ENSP00000510750.1:p.Lys4=
ENST00000355527.8:c.12A>G MANE Select	ENSP00000347717.4:p.Lys4=
ENST00000355527.7:c.12A>G	ENSP00000347717.3:p.Lys4=
ENST00000407721.6:c.12A>G	ENSP00000384739.2:p.Lys4=
ENST00000525346.5:c.12A>G	ENSP00000435707.2:p.Lys4=
ENST00000526780.5:c.12A>G	ENSP00000435668.1:p.Lys4=
ENST00000527316.5:c.12A>G	ENSP00000435047.1:p.Lys4=
ENST00000527452.1:c.12A>G	ENSP00000436007.1:p.Lys4=
ENST00000529990.5:c.-87A>G	ENSP00000435058.1:n.-87A>G
ENST00000531364.5:c.12A>G	ENSP00000432589.1:p.Lys4=
NM_001163817.1:c.12A>G	NP_001157289.1:p.Lys4=
NM_001360.2:c.12A>G , LRG_340t1:c.12A>G	NP_001351.2:p.Lys4=
XM_011544777.1:c.12A>G	XP_011543079.1:p.Lys4=
XM_011544777.2:c.12A>G	XP_011543079.1:p.Lys4=
NM_001163817.2:c.12A>G	NP_001157289.1:p.Lys4=
NM_001360.3:c.12A>G MANE Select	NP_001351.2:p.Lys4=