Canonical Allele Identifier: CA475520261

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 2742136
• ClinVar RCV Id: RCV003506796
• dbSNP Id: rs1157478971
• MyVariant Identifiers: chr11:g.71155090T>C (hg19) ; chr11:g.71444044T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444044T>C , CM000673.2:g.71444044T>C	GRCh38
NC_000011.9:g.71155090T>C , CM000673.1:g.71155090T>C	GRCh37
NC_000011.8:g.70832738T>C	NCBI36
NG_012655.2:g.9388A>G , LRG_340:g.9388A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.270A>G	ENSP00000435707.3:p.Pro90=
ENST00000526780.6:c.270A>G	ENSP00000435668.2:p.Pro90=
ENST00000527316.6:c.96A>G	ENSP00000435047.2:p.Pro32=
ENST00000529990.6:c.96A>G	ENSP00000435058.2:p.Pro32=
ENST00000682708.1:c.270A>G	ENSP00000506866.1:p.Pro90=
ENST00000682880.1:c.270A>G	ENSP00000507520.1:p.Pro90=
ENST00000683287.1:c.270A>G	ENSP00000507607.1:p.Pro90=
ENST00000683714.1:c.270A>G	ENSP00000508207.1:p.Pro90=
ENST00000683874.1:n.547A>G
ENST00000685320.1:c.-316A>G	ENSP00000509319.1:n.-316A>G
ENST00000690257.1:c.174A>G	ENSP00000510750.1:p.Pro58=
ENST00000355527.8:c.270A>G MANE Select	ENSP00000347717.4:p.Pro90=
ENST00000355527.7:c.270A>G	ENSP00000347717.3:p.Pro90=
ENST00000407721.6:c.270A>G	ENSP00000384739.2:p.Pro90=
ENST00000525346.5:c.270A>G	ENSP00000435707.2:p.Pro90=
ENST00000526780.5:c.270A>G	ENSP00000435668.1:p.Pro90=
ENST00000527316.5:c.174A>G	ENSP00000435047.1:p.Pro58=
ENST00000527452.1:c.270A>G	ENSP00000436007.1:p.Pro90=
ENST00000529990.5:c.210A>G	ENSP00000435058.1:p.Pro70=
ENST00000531364.5:c.270A>G	ENSP00000432589.1:p.Pro90=
NM_001163817.1:c.270A>G	NP_001157289.1:p.Pro90=
NM_001360.2:c.270A>G , LRG_340t1:c.270A>G	NP_001351.2:p.Pro90=
XM_011544777.1:c.270A>G	XP_011543079.1:p.Pro90=
XM_011544777.2:c.270A>G	XP_011543079.1:p.Pro90=
NM_001163817.2:c.270A>G	NP_001157289.1:p.Pro90=
NM_001360.3:c.270A>G MANE Select	NP_001351.2:p.Pro90=