Canonical Allele Identifier: CA381702107

Gene: DHCR7

Linked Data

• dbSNP Id: rs371302153
• gnomAD v2: 11-71146765-G-T
• gnomAD v4: 11-71435719-G-T
• MyVariant Identifiers: chr11:g.71146765G>T (hg19) ; chr11:g.71435719G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435719G>T , CM000673.2:g.71435719G>T	GRCh38
NC_000011.9:g.71146765G>T , CM000673.1:g.71146765G>T	GRCh37
NC_000011.8:g.70824413G>T	NCBI36
NG_012655.2:g.17713C>A , LRG_340:g.17713C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1084C>A	ENSP00000435707.3:p.Arg362Ser
ENST00000526780.6:c.1084C>A	ENSP00000435668.2:p.Arg362Ser
ENST00000527316.6:c.910C>A	ENSP00000435047.2:p.Arg304Ser
ENST00000682708.1:c.1135C>A	ENSP00000506866.1:p.Arg379Ser
ENST00000683287.1:c.1120C>A	ENSP00000507607.1:p.Arg374Ser
ENST00000683714.1:c.1092C>A	ENSP00000508207.1:p.Ser364=
ENST00000684396.1:n.1124C>A
ENST00000685320.1:c.499C>A	ENSP00000509319.1:p.Arg167Ser
ENST00000690257.1:c.988C>A	ENSP00000510750.1:p.Arg330Ser
ENST00000355527.8:c.1084C>A MANE Select	ENSP00000347717.4:p.Arg362Ser
ENST00000355527.7:c.1084C>A	ENSP00000347717.3:p.Arg362Ser
ENST00000407721.6:c.1084C>A	ENSP00000384739.2:p.Arg362Ser
ENST00000525137.1:c.585C>A	ENSP00000435956.1:p.Ser195=
ENST00000533800.5:c.334C>A	ENSP00000435011.1:p.Arg112Ser
ENST00000534795.5:c.319+2093C>A
NM_001163817.1:c.1084C>A	NP_001157289.1:p.Arg362Ser
NM_001360.2:c.1084C>A , LRG_340t1:c.1084C>A	NP_001351.2:p.Arg362Ser
XM_011544777.1:c.1218C>A	XP_011543079.1:p.Ser406=
XM_011544777.2:c.1218C>A	XP_011543079.1:p.Ser406=
NM_001163817.2:c.1084C>A	NP_001157289.1:p.Arg362Ser
NM_001360.3:c.1084C>A MANE Select	NP_001351.2:p.Arg362Ser