Canonical Allele Identifier: CA224326403

Gene: DHCR7

Linked Data

• dbSNP Id: rs764908525
• gnomAD v2: 11-71148771-C-T
• gnomAD v3: 11-71437725-C-T
• gnomAD v4: 11-71437725-C-T
• COSMIC: COSN18446727
• MyVariant Identifiers: chr11:g.71148771C>T (hg19) ; chr11:g.71437725C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437725C>T , CM000673.2:g.71437725C>T	GRCh38
NC_000011.9:g.71148771C>T , CM000673.1:g.71148771C>T	GRCh37
NC_000011.8:g.70826419C>T	NCBI36
NG_012655.2:g.15707G>A , LRG_340:g.15707G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.963+87G>A	ENSP00000435707.3:n.963+87G>A
ENST00000526780.6:c.963+87G>A	ENSP00000435668.2:n.963+87G>A
ENST00000527316.6:c.789+87G>A	ENSP00000435047.2:n.789+87G>A
ENST00000682708.1:c.1014+87G>A	ENSP00000506866.1:n.1014+87G>A
ENST00000682880.1:c.1050G>A	ENSP00000507520.1:p.Gly350=
ENST00000683287.1:c.999+87G>A	ENSP00000507607.1:n.999+87G>A
ENST00000683714.1:c.971+79G>A	ENSP00000508207.1:n.971+79G>A
ENST00000684396.1:n.1003+87G>A
ENST00000685320.1:c.378+87G>A	ENSP00000509319.1:n.378+87G>A
ENST00000690257.1:c.867+87G>A	ENSP00000510750.1:n.867+87G>A
ENST00000355527.8:c.963+87G>A MANE Select	ENSP00000347717.4:n.963+87G>A
ENST00000355527.7:c.963+87G>A	ENSP00000347717.3:n.963+87G>A
ENST00000407721.6:c.963+87G>A	ENSP00000384739.2:n.963+87G>A
ENST00000525137.1:c.330+87G>A	ENSP00000435956.1:n.330+87G>A
ENST00000533800.5:c.213+87G>A	ENSP00000435011.1:n.213+87G>A
ENST00000534795.5:c.319+87G>A
NM_001163817.1:c.963+87G>A	NP_001157289.1:n.963+87G>A
NM_001360.2:c.963+87G>A , LRG_340t1:c.963+87G>A	NP_001351.2:n.963+87G>A
XM_011544777.1:c.963+87G>A	XP_011543079.1:n.963+87G>A
XM_011544777.2:c.963+87G>A	XP_011543079.1:n.963+87G>A
NM_001163817.2:c.963+87G>A	NP_001157289.1:n.963+87G>A
NM_001360.3:c.963+87G>A MANE Select	NP_001351.2:n.963+87G>A