Canonical Allele Identifier: CA381701444

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146635T>A (hg19) ; chr11:g.71435589T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435589T>A , CM000673.2:g.71435589T>A	GRCh38
NC_000011.9:g.71146635T>A , CM000673.1:g.71146635T>A	GRCh37
NC_000011.8:g.70824283T>A	NCBI36
NG_012655.2:g.17843A>T , LRG_340:g.17843A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1214A>T	ENSP00000435707.3:p.His405Leu
ENST00000526780.6:c.1214A>T	ENSP00000435668.2:p.His405Leu
ENST00000527316.6:c.1040A>T	ENSP00000435047.2:p.His347Leu
ENST00000682708.1:c.1265A>T	ENSP00000506866.1:p.His422Leu
ENST00000683287.1:c.1250A>T	ENSP00000507607.1:p.His417Leu
ENST00000683714.1:c.1222A>T	ENSP00000508207.1:p.Thr408Ser
ENST00000684396.1:n.1254A>T
ENST00000685320.1:c.629A>T	ENSP00000509319.1:p.His210Leu
ENST00000690257.1:c.1118A>T	ENSP00000510750.1:p.His373Leu
ENST00000355527.8:c.1214A>T MANE Select	ENSP00000347717.4:p.His405Leu
ENST00000355527.7:c.1214A>T	ENSP00000347717.3:p.His405Leu
ENST00000407721.6:c.1214A>T	ENSP00000384739.2:p.His405Leu
ENST00000525137.1:c.715A>T	ENSP00000435956.1:p.Thr239Ser
ENST00000533800.5:c.464A>T	ENSP00000435011.1:p.His155Leu
ENST00000534795.5:c.319+2223A>T
NM_001163817.1:c.1214A>T	NP_001157289.1:p.His405Leu
NM_001360.2:c.1214A>T , LRG_340t1:c.1214A>T	NP_001351.2:p.His405Leu
XM_011544777.1:c.1348A>T	XP_011543079.1:p.Thr450Ser
XM_011544777.2:c.1348A>T	XP_011543079.1:p.Thr450Ser
NM_001163817.2:c.1214A>T	NP_001157289.1:p.His405Leu
NM_001360.3:c.1214A>T MANE Select	NP_001351.2:p.His405Leu