Canonical Allele Identifier: CA381702176

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146782T>A (hg19) ; chr11:g.71435736T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435736T>A , CM000673.2:g.71435736T>A	GRCh38
NC_000011.9:g.71146782T>A , CM000673.1:g.71146782T>A	GRCh37
NC_000011.8:g.70824430T>A	NCBI36
NG_012655.2:g.17696A>T , LRG_340:g.17696A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.1067A>T	ENSP00000435707.3:p.His356Leu
ENST00000526780.6:c.1067A>T	ENSP00000435668.2:p.His356Leu
ENST00000527316.6:c.893A>T	ENSP00000435047.2:p.His298Leu
ENST00000682708.1:c.1118A>T	ENSP00000506866.1:p.His373Leu
ENST00000683287.1:c.1103A>T	ENSP00000507607.1:p.His368Leu
ENST00000683714.1:c.1075A>T	ENSP00000508207.1:p.Thr359Ser
ENST00000684396.1:n.1107A>T
ENST00000685320.1:c.482A>T	ENSP00000509319.1:p.His161Leu
ENST00000690257.1:c.971A>T	ENSP00000510750.1:p.His324Leu
ENST00000355527.8:c.1067A>T MANE Select	ENSP00000347717.4:p.His356Leu
ENST00000355527.7:c.1067A>T	ENSP00000347717.3:p.His356Leu
ENST00000407721.6:c.1067A>T	ENSP00000384739.2:p.His356Leu
ENST00000525137.1:c.568A>T	ENSP00000435956.1:p.Thr190Ser
ENST00000533800.5:c.317A>T	ENSP00000435011.1:p.His106Leu
ENST00000534795.5:c.319+2076A>T
NM_001163817.1:c.1067A>T	NP_001157289.1:p.His356Leu
NM_001360.2:c.1067A>T , LRG_340t1:c.1067A>T	NP_001351.2:p.His356Leu
XM_011544777.1:c.1201A>T	XP_011543079.1:p.Thr401Ser
XM_011544777.2:c.1201A>T	XP_011543079.1:p.Thr401Ser
NM_001163817.2:c.1067A>T	NP_001157289.1:p.His356Leu
NM_001360.3:c.1067A>T MANE Select	NP_001351.2:p.His356Leu