Canonical Allele Identifier: CA381703186

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71149925C>A (hg19) ; chr11:g.71438879C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71438879C>A , CM000673.2:g.71438879C>A	GRCh38
NC_000011.9:g.71149925C>A , CM000673.1:g.71149925C>A	GRCh37
NC_000011.8:g.70827573C>A	NCBI36
NG_012655.2:g.14553G>T , LRG_340:g.14553G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.831G>T	ENSP00000435707.3:p.Gln277His
ENST00000526780.6:c.831G>T	ENSP00000435668.2:p.Gln277His
ENST00000527316.6:c.657G>T	ENSP00000435047.2:p.Gln219His
ENST00000682708.1:c.882G>T	ENSP00000506866.1:p.Gln294His
ENST00000682880.1:c.831G>T	ENSP00000507520.1:p.Gln277His
ENST00000683287.1:c.867G>T	ENSP00000507607.1:p.Gln289His
ENST00000683714.1:c.831G>T	ENSP00000508207.1:p.Gln277His
ENST00000684396.1:n.871G>T
ENST00000685320.1:c.246G>T	ENSP00000509319.1:p.Gln82His
ENST00000690257.1:c.735G>T	ENSP00000510750.1:p.Gln245His
ENST00000355527.8:c.831G>T MANE Select	ENSP00000347717.4:p.Gln277His
ENST00000355527.7:c.831G>T	ENSP00000347717.3:p.Gln277His
ENST00000407721.6:c.831G>T	ENSP00000384739.2:p.Gln277His
ENST00000525137.1:c.198G>T	ENSP00000435956.1:p.Gln66His
ENST00000527316.5:c.735G>T	ENSP00000435047.1:p.Gln245His
ENST00000533800.5:c.81G>T	ENSP00000435011.1:p.Gln27His
ENST00000534701.1:n.326G>T
ENST00000534795.5:c.187G>T
NM_001163817.1:c.831G>T	NP_001157289.1:p.Gln277His
NM_001360.2:c.831G>T , LRG_340t1:c.831G>T	NP_001351.2:p.Gln277His
XM_011544777.1:c.831G>T	XP_011543079.1:p.Gln277His
XM_011544777.2:c.831G>T	XP_011543079.1:p.Gln277His
NM_001163817.2:c.831G>T	NP_001157289.1:p.Gln277His
NM_001360.3:c.831G>T MANE Select	NP_001351.2:p.Gln277His