Canonical Allele Identifier: CA475860959

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1566939
• ClinVar RCV Id: RCV002214589
• dbSNP Id: rs770971876
• gnomAD v4: 11-71435525-G-A
• MyVariant Identifiers: chr11:g.71146571G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435525G>A , CM000673.2:g.71435525G>A	GRCh38
NC_000011.9:g.71146571G>A , CM000673.1:g.71146571G>A	GRCh37
NC_000011.8:g.70824219G>A	NCBI36
NG_012655.2:g.17907C>T , LRG_340:g.17907C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.1278C>T	ENSP00000435707.3:p.His426=
ENST00000526780.6:c.1278C>T	ENSP00000435668.2:p.His426=
ENST00000527316.6:c.1104C>T	ENSP00000435047.2:p.His368=
ENST00000682708.1:c.1329C>T	ENSP00000506866.1:p.His443=
ENST00000683287.1:c.1314C>T	ENSP00000507607.1:p.His438=
ENST00000683714.1:c.*41C>T	ENSP00000508207.1:n.*41C>T
ENST00000684396.1:n.1318C>T
ENST00000685320.1:c.693C>T	ENSP00000509319.1:p.His231=
ENST00000690257.1:c.1182C>T	ENSP00000510750.1:p.His394=
ENST00000355527.8:c.1278C>T MANE Select	ENSP00000347717.4:p.His426=
ENST00000355527.7:c.1278C>T	ENSP00000347717.3:p.His426=
ENST00000407721.6:c.1278C>T	ENSP00000384739.2:p.His426=
ENST00000525137.1:c.779C>T	ENSP00000435956.1:n.779C>T
ENST00000533800.5:c.528C>T	ENSP00000435011.1:p.His176=
ENST00000534795.5:c.319+2287C>T
NM_001163817.1:c.1278C>T	NP_001157289.1:p.His426=
NM_001360.2:c.1278C>T , LRG_340t1:c.1278C>T	NP_001351.2:p.His426=
XM_011544777.1:c.*41C>T	XP_011543079.1:n.*41C>T
XM_011544777.2:c.*41C>T	XP_011543079.1:n.*41C>T
NM_001163817.2:c.1278C>T	NP_001157289.1:p.His426=
NM_001360.3:c.1278C>T MANE Select	NP_001351.2:p.His426=