Canonical Allele Identifier: CA6162253

Gene: DHCR7

Linked Data

• dbSNP Id: rs542266962
• ExAC: 11:71146500 C / A
• gnomAD v2: 11-71146500-C-A
• gnomAD v3: 11-71435454-C-A
• gnomAD v4: 11-71435454-C-A
• MyVariant Identifiers: chr11:g.71146500C>A (hg19) ; chr11:g.71435454C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435454C>A , CM000673.2:g.71435454C>A	GRCh38
NC_000011.9:g.71146500C>A , CM000673.1:g.71146500C>A	GRCh37
NC_000011.8:g.70824148C>A	NCBI36
NG_012655.2:g.17978G>T , LRG_340:g.17978G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1349G>T	ENSP00000435707.3:p.Arg450Leu
ENST00000526780.6:c.1349G>T	ENSP00000435668.2:p.Arg450Leu
ENST00000527316.6:c.1175G>T	ENSP00000435047.2:p.Arg392Leu
ENST00000682708.1:c.1400G>T	ENSP00000506866.1:p.Arg467Leu
ENST00000683287.1:c.1385G>T	ENSP00000507607.1:p.Arg462Leu
ENST00000683714.1:c.*112G>T	ENSP00000508207.1:n.*112G>T
ENST00000684396.1:n.1389G>T
ENST00000685320.1:c.764G>T	ENSP00000509319.1:p.Arg255Leu
ENST00000690257.1:c.1253G>T	ENSP00000510750.1:p.Arg418Leu
ENST00000355527.8:c.1349G>T MANE Select	ENSP00000347717.4:p.Arg450Leu
ENST00000355527.7:c.1349G>T	ENSP00000347717.3:p.Arg450Leu
ENST00000407721.6:c.1349G>T	ENSP00000384739.2:p.Arg450Leu
ENST00000525137.1:c.850G>T	ENSP00000435956.1:n.850G>T
ENST00000533800.5:c.599G>T	ENSP00000435011.1:p.Arg200Leu
ENST00000534795.5:c.319+2358G>T
NM_001163817.1:c.1349G>T	NP_001157289.1:p.Arg450Leu
NM_001360.2:c.1349G>T , LRG_340t1:c.1349G>T	NP_001351.2:p.Arg450Leu
XM_011544777.1:c.*112G>T	XP_011543079.1:n.*112G>T
XM_011544777.2:c.*112G>T	XP_011543079.1:n.*112G>T
NM_001163817.2:c.1349G>T	NP_001157289.1:p.Arg450Leu
NM_001360.3:c.1349G>T MANE Select	NP_001351.2:p.Arg450Leu