Canonical Allele Identifier: CA6162259

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 551257
• ClinVar RCV Id: RCV000666265 ; RCV002530674
• dbSNP Id: rs145043679
• ExAC: 11:71146513 G / A
• gnomAD v2: 11-71146513-G-A
• gnomAD v3: 11-71435467-G-A
• gnomAD v4: 11-71435467-G-A
• COSMIC: COSM2044463 ; COSM2044464
• MyVariant Identifiers: chr11:g.71146513G>A (hg19) ; chr11:g.71435467G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435467G>A , CM000673.2:g.71435467G>A	GRCh38
NC_000011.9:g.71146513G>A , CM000673.1:g.71146513G>A	GRCh37
NC_000011.8:g.70824161G>A	NCBI36
NG_012655.2:g.17965C>T , LRG_340:g.17965C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1336C>T	ENSP00000435707.3:p.Arg446Trp
ENST00000526780.6:c.1336C>T	ENSP00000435668.2:p.Arg446Trp
ENST00000527316.6:c.1162C>T	ENSP00000435047.2:p.Arg388Trp
ENST00000682708.1:c.1387C>T	ENSP00000506866.1:p.Arg463Trp
ENST00000683287.1:c.1372C>T	ENSP00000507607.1:p.Arg458Trp
ENST00000683714.1:c.*99C>T	ENSP00000508207.1:n.*99C>T
ENST00000684396.1:n.1376C>T
ENST00000685320.1:c.751C>T	ENSP00000509319.1:p.Arg251Trp
ENST00000690257.1:c.1240C>T	ENSP00000510750.1:p.Arg414Trp
ENST00000355527.8:c.1336C>T MANE Select	ENSP00000347717.4:p.Arg446Trp
ENST00000355527.7:c.1336C>T	ENSP00000347717.3:p.Arg446Trp
ENST00000407721.6:c.1336C>T	ENSP00000384739.2:p.Arg446Trp
ENST00000525137.1:c.837C>T	ENSP00000435956.1:n.837C>T
ENST00000533800.5:c.586C>T	ENSP00000435011.1:p.Arg196Trp
ENST00000534795.5:c.319+2345C>T
NM_001163817.1:c.1336C>T	NP_001157289.1:p.Arg446Trp
NM_001360.2:c.1336C>T , LRG_340t1:c.1336C>T	NP_001351.2:p.Arg446Trp
XM_011544777.1:c.*99C>T	XP_011543079.1:n.*99C>T
XM_011544777.2:c.*99C>T	XP_011543079.1:n.*99C>T
NM_001163817.2:c.1336C>T	NP_001157289.1:p.Arg446Trp
NM_001360.3:c.1336C>T MANE Select	NP_001351.2:p.Arg446Trp