Canonical Allele Identifier: CA381702888

Gene: DHCR7

Linked Data

• dbSNP Id: rs766583874
• gnomAD v2: 11-71148865-G-T
• gnomAD v4: 11-71437819-G-T
• MyVariant Identifiers: chr11:g.71148865G>T (hg19) ; chr11:g.71437819G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437819G>T , CM000673.2:g.71437819G>T	GRCh38
NC_000011.9:g.71148865G>T , CM000673.1:g.71148865G>T	GRCh37
NC_000011.8:g.70826513G>T	NCBI36
NG_012655.2:g.15613C>A , LRG_340:g.15613C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.956C>A	ENSP00000435707.3:p.Thr319Lys
ENST00000526780.6:c.956C>A	ENSP00000435668.2:p.Thr319Lys
ENST00000527316.6:c.782C>A	ENSP00000435047.2:p.Thr261Lys
ENST00000682708.1:c.1007C>A	ENSP00000506866.1:p.Thr336Lys
ENST00000682880.1:c.956C>A	ENSP00000507520.1:p.Thr319Lys
ENST00000683287.1:c.992C>A	ENSP00000507607.1:p.Thr331Lys
ENST00000683714.1:c.956C>A	ENSP00000508207.1:p.Thr319Lys
ENST00000684396.1:n.996C>A
ENST00000685320.1:c.371C>A	ENSP00000509319.1:p.Thr124Lys
ENST00000690257.1:c.860C>A	ENSP00000510750.1:p.Thr287Lys
ENST00000355527.8:c.956C>A MANE Select	ENSP00000347717.4:p.Thr319Lys
ENST00000355527.7:c.956C>A	ENSP00000347717.3:p.Thr319Lys
ENST00000407721.6:c.956C>A	ENSP00000384739.2:p.Thr319Lys
ENST00000525137.1:c.323C>A	ENSP00000435956.1:p.Thr108Lys
ENST00000533800.5:c.206C>A	ENSP00000435011.1:p.Thr69Lys
ENST00000534795.5:c.312C>A
NM_001163817.1:c.956C>A	NP_001157289.1:p.Thr319Lys
NM_001360.2:c.956C>A , LRG_340t1:c.956C>A	NP_001351.2:p.Thr319Lys
XM_011544777.1:c.956C>A	XP_011543079.1:p.Thr319Lys
XM_011544777.2:c.956C>A	XP_011543079.1:p.Thr319Lys
NM_001163817.2:c.956C>A	NP_001157289.1:p.Thr319Lys
NM_001360.3:c.956C>A MANE Select	NP_001351.2:p.Thr319Lys