Canonical Allele Identifier: CA381700607

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146479C>G (hg19) ; chr11:g.71435433C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435433C>G , CM000673.2:g.71435433C>G	GRCh38
NC_000011.9:g.71146479C>G , CM000673.1:g.71146479C>G	GRCh37
NC_000011.8:g.70824127C>G	NCBI36
NG_012655.2:g.17999G>C , LRG_340:g.17999G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1370G>C	ENSP00000435707.3:p.Arg457Pro
ENST00000526780.6:c.1370G>C	ENSP00000435668.2:p.Arg457Pro
ENST00000527316.6:c.1196G>C	ENSP00000435047.2:p.Arg399Pro
ENST00000682708.1:c.1421G>C	ENSP00000506866.1:p.Arg474Pro
ENST00000683287.1:c.1406G>C	ENSP00000507607.1:p.Arg469Pro
ENST00000683714.1:c.*133G>C	ENSP00000508207.1:n.*133G>C
ENST00000684396.1:n.1410G>C
ENST00000685320.1:c.785G>C	ENSP00000509319.1:p.Arg262Pro
ENST00000690257.1:c.1274G>C	ENSP00000510750.1:p.Arg425Pro
ENST00000355527.8:c.1370G>C MANE Select	ENSP00000347717.4:p.Arg457Pro
ENST00000355527.7:c.1370G>C	ENSP00000347717.3:p.Arg457Pro
ENST00000407721.6:c.1370G>C	ENSP00000384739.2:p.Arg457Pro
ENST00000525137.1:c.871G>C	ENSP00000435956.1:n.871G>C
ENST00000533800.5:c.611+9G>C	ENSP00000435011.1:n.611+9G>C
ENST00000534795.5:c.319+2379G>C
NM_001163817.1:c.1370G>C	NP_001157289.1:p.Arg457Pro
NM_001360.2:c.1370G>C , LRG_340t1:c.1370G>C	NP_001351.2:p.Arg457Pro
XM_011544777.1:c.*133G>C	XP_011543079.1:n.*133G>C
XM_011544777.2:c.*133G>C	XP_011543079.1:n.*133G>C
NM_001163817.2:c.1370G>C	NP_001157289.1:p.Arg457Pro
NM_001360.3:c.1370G>C MANE Select	NP_001351.2:p.Arg457Pro