Canonical Allele Identifier: CA10603223

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 280065
• ClinVar RCV Id: RCV000383910 ; RCV000670451
• dbSNP Id: rs886041354
• gnomAD v4: 11-71438970-G-A
• MyVariant Identifiers: chr11:g.71150016G>A (hg19) ; chr11:g.71438970G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71438970G>A , CM000673.2:g.71438970G>A	GRCh38
NC_000011.9:g.71150016G>A , CM000673.1:g.71150016G>A	GRCh37
NC_000011.8:g.70827664G>A	NCBI36
NG_012655.2:g.14462C>T , LRG_340:g.14462C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.740C>T	ENSP00000435707.3:p.Ala247Val
ENST00000526780.6:c.740C>T	ENSP00000435668.2:p.Ala247Val
ENST00000527316.6:c.566C>T	ENSP00000435047.2:p.Ala189Val
ENST00000682708.1:c.791C>T	ENSP00000506866.1:p.Ala264Val
ENST00000682880.1:c.740C>T	ENSP00000507520.1:p.Ala247Val
ENST00000683287.1:c.776C>T	ENSP00000507607.1:p.Ala259Val
ENST00000683714.1:c.740C>T	ENSP00000508207.1:p.Ala247Val
ENST00000684396.1:n.780C>T
ENST00000685320.1:c.155C>T	ENSP00000509319.1:p.Ala52Val
ENST00000690257.1:c.644C>T	ENSP00000510750.1:p.Ala215Val
ENST00000355527.8:c.740C>T MANE Select	ENSP00000347717.4:p.Ala247Val
ENST00000355527.7:c.740C>T	ENSP00000347717.3:p.Ala247Val
ENST00000407721.6:c.740C>T	ENSP00000384739.2:p.Ala247Val
ENST00000525137.1:c.107C>T	ENSP00000435956.1:p.Ala36Val
ENST00000527316.5:c.644C>T	ENSP00000435047.1:p.Ala215Val
ENST00000534701.1:n.235C>T
ENST00000534795.5:c.96C>T
NM_001163817.1:c.740C>T	NP_001157289.1:p.Ala247Val
NM_001360.2:c.740C>T , LRG_340t1:c.740C>T	NP_001351.2:p.Ala247Val
XM_011544777.1:c.740C>T	XP_011543079.1:p.Ala247Val
XM_011544777.2:c.740C>T	XP_011543079.1:p.Ala247Val
NM_001163817.2:c.740C>T	NP_001157289.1:p.Ala247Val
NM_001360.3:c.740C>T MANE Select	NP_001351.2:p.Ala247Val