Canonical Allele Identifier: CA6162655

Gene: DHCR7

Linked Data

• dbSNP Id: rs752153214
• ExAC: 11:71155118 C / T
• gnomAD v2: 11-71155118-C-T
• gnomAD v3: 11-71444072-C-T
• gnomAD v4: 11-71444072-C-T
• MyVariant Identifiers: chr11:g.71155118C>T (hg19) ; chr11:g.71444072C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444072C>T , CM000673.2:g.71444072C>T	GRCh38
NC_000011.9:g.71155118C>T , CM000673.1:g.71155118C>T	GRCh37
NC_000011.8:g.70832766C>T	NCBI36
NG_012655.2:g.9360G>A , LRG_340:g.9360G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.242G>A	ENSP00000435707.3:p.Arg81Gln
ENST00000526780.6:c.242G>A	ENSP00000435668.2:p.Arg81Gln
ENST00000527316.6:c.68G>A	ENSP00000435047.2:p.Arg23Gln
ENST00000529990.6:c.68G>A	ENSP00000435058.2:p.Arg23Gln
ENST00000682708.1:c.242G>A	ENSP00000506866.1:p.Arg81Gln
ENST00000682880.1:c.242G>A	ENSP00000507520.1:p.Arg81Gln
ENST00000683287.1:c.242G>A	ENSP00000507607.1:p.Arg81Gln
ENST00000683714.1:c.242G>A	ENSP00000508207.1:p.Arg81Gln
ENST00000683874.1:n.519G>A
ENST00000685320.1:c.-333-11G>A	ENSP00000509319.1:n.-333-11G>A
ENST00000690257.1:c.146G>A	ENSP00000510750.1:p.Arg49Gln
ENST00000355527.8:c.242G>A MANE Select	ENSP00000347717.4:p.Arg81Gln
ENST00000355527.7:c.242G>A	ENSP00000347717.3:p.Arg81Gln
ENST00000407721.6:c.242G>A	ENSP00000384739.2:p.Arg81Gln
ENST00000525346.5:c.242G>A	ENSP00000435707.2:p.Arg81Gln
ENST00000526780.5:c.242G>A	ENSP00000435668.1:p.Arg81Gln
ENST00000527316.5:c.146G>A	ENSP00000435047.1:p.Arg49Gln
ENST00000527452.1:c.242G>A	ENSP00000436007.1:p.Arg81Gln
ENST00000529990.5:c.182G>A	ENSP00000435058.1:p.Arg61Gln
ENST00000531364.5:c.242G>A	ENSP00000432589.1:p.Arg81Gln
NM_001163817.1:c.242G>A	NP_001157289.1:p.Arg81Gln
NM_001360.2:c.242G>A , LRG_340t1:c.242G>A	NP_001351.2:p.Arg81Gln
XM_011544777.1:c.242G>A	XP_011543079.1:p.Arg81Gln
XM_011544777.2:c.242G>A	XP_011543079.1:p.Arg81Gln
NM_001163817.2:c.242G>A	NP_001157289.1:p.Arg81Gln
NM_001360.3:c.242G>A MANE Select	NP_001351.2:p.Arg81Gln