Canonical Allele Identifier: CA224324615

Gene: DHCR7

Linked Data

• dbSNP Id: rs916217045
• gnomAD v3: 11-71435766-A-T
• gnomAD v4: 11-71435766-A-T
• MyVariant Identifiers: chr11:g.71146812A>T (hg19) ; chr11:g.71435766A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435766A>T , CM000673.2:g.71435766A>T	GRCh38
NC_000011.9:g.71146812A>T , CM000673.1:g.71146812A>T	GRCh37
NC_000011.8:g.70824460A>T	NCBI36
NG_012655.2:g.17666T>A , LRG_340:g.17666T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1037T>A	ENSP00000435707.3:p.Val346Glu
ENST00000526780.6:c.1037T>A	ENSP00000435668.2:p.Val346Glu
ENST00000527316.6:c.863T>A	ENSP00000435047.2:p.Val288Glu
ENST00000682708.1:c.1088T>A	ENSP00000506866.1:p.Val363Glu
ENST00000683287.1:c.1073T>A	ENSP00000507607.1:p.Val358Glu
ENST00000683714.1:c.1045T>A	ENSP00000508207.1:p.Trp349Arg
ENST00000684396.1:n.1077T>A
ENST00000685320.1:c.452T>A	ENSP00000509319.1:p.Val151Glu
ENST00000690257.1:c.941T>A	ENSP00000510750.1:p.Val314Glu
ENST00000355527.8:c.1037T>A MANE Select	ENSP00000347717.4:p.Val346Glu
ENST00000355527.7:c.1037T>A	ENSP00000347717.3:p.Val346Glu
ENST00000407721.6:c.1037T>A	ENSP00000384739.2:p.Val346Glu
ENST00000525137.1:c.538T>A	ENSP00000435956.1:p.Trp180Arg
ENST00000533800.5:c.287T>A	ENSP00000435011.1:p.Val96Glu
ENST00000534795.5:c.319+2046T>A
NM_001163817.1:c.1037T>A	NP_001157289.1:p.Val346Glu
NM_001360.2:c.1037T>A , LRG_340t1:c.1037T>A	NP_001351.2:p.Val346Glu
XM_011544777.1:c.1171T>A	XP_011543079.1:p.Trp391Arg
XM_011544777.2:c.1171T>A	XP_011543079.1:p.Trp391Arg
NM_001163817.2:c.1037T>A	NP_001157289.1:p.Val346Glu
NM_001360.3:c.1037T>A MANE Select	NP_001351.2:p.Val346Glu