Canonical Allele Identifier: CA381701371

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1457187
• ClinVar RCV Id: RCV003418255 ; RCV001972582
• dbSNP Id: rs80338862
• gnomAD v2: 11-71146621-C-G
• gnomAD v3: 11-71435575-C-G
• gnomAD v4: 11-71435575-C-G
• MyVariant Identifiers: chr11:g.71146621C>G (hg19) ; chr11:g.71435575C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435575C>G , CM000673.2:g.71435575C>G	GRCh38
NC_000011.9:g.71146621C>G , CM000673.1:g.71146621C>G	GRCh37
NC_000011.8:g.70824269C>G	NCBI36
NG_012655.2:g.17857G>C , LRG_340:g.17857G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1228G>C	ENSP00000435707.3:p.Gly410Arg
ENST00000526780.6:c.1228G>C	ENSP00000435668.2:p.Gly410Arg
ENST00000527316.6:c.1054G>C	ENSP00000435047.2:p.Gly352Arg
ENST00000682708.1:c.1279G>C	ENSP00000506866.1:p.Gly427Arg
ENST00000683287.1:c.1264G>C	ENSP00000507607.1:p.Gly422Arg
ENST00000683714.1:c.1236G>C	ENSP00000508207.1:p.Ser412=
ENST00000684396.1:n.1268G>C
ENST00000685320.1:c.643G>C	ENSP00000509319.1:p.Gly215Arg
ENST00000690257.1:c.1132G>C	ENSP00000510750.1:p.Gly378Arg
ENST00000355527.8:c.1228G>C MANE Select	ENSP00000347717.4:p.Gly410Arg
ENST00000355527.7:c.1228G>C	ENSP00000347717.3:p.Gly410Arg
ENST00000407721.6:c.1228G>C	ENSP00000384739.2:p.Gly410Arg
ENST00000525137.1:c.729G>C	ENSP00000435956.1:p.Ser243=
ENST00000533800.5:c.478G>C	ENSP00000435011.1:p.Gly160Arg
ENST00000534795.5:c.319+2237G>C
NM_001163817.1:c.1228G>C	NP_001157289.1:p.Gly410Arg
NM_001360.2:c.1228G>C , LRG_340t1:c.1228G>C	NP_001351.2:p.Gly410Arg
XM_011544777.1:c.1362G>C	XP_011543079.1:p.Ser454=
XM_011544777.2:c.1362G>C	XP_011543079.1:p.Ser454=
NM_001163817.2:c.1228G>C	NP_001157289.1:p.Gly410Arg
NM_001360.3:c.1228G>C MANE Select	NP_001351.2:p.Gly410Arg