Canonical Allele Identifier: CA475567901

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1148415
• ClinVar RCV Id: RCV001488271
• dbSNP Id: rs1949304955
• gnomAD v4: 11-71437938-G-A
• MyVariant Identifiers: chr11:g.71148984G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437938G>A , CM000673.2:g.71437938G>A	GRCh38
NC_000011.9:g.71148984G>A , CM000673.1:g.71148984G>A	GRCh37
NC_000011.8:g.70826632G>A	NCBI36
NG_012655.2:g.15494C>T , LRG_340:g.15494C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.837C>T	ENSP00000435707.3:p.Ile279=
ENST00000526780.6:c.837C>T	ENSP00000435668.2:p.Ile279=
ENST00000527316.6:c.663C>T	ENSP00000435047.2:p.Ile221=
ENST00000682708.1:c.888C>T	ENSP00000506866.1:p.Ile296=
ENST00000682880.1:c.837C>T	ENSP00000507520.1:p.Ile279=
ENST00000683287.1:c.873C>T	ENSP00000507607.1:p.Ile291=
ENST00000683714.1:c.837C>T	ENSP00000508207.1:p.Ile279=
ENST00000684396.1:n.877C>T
ENST00000685320.1:c.252C>T	ENSP00000509319.1:p.Ile84=
ENST00000690257.1:c.741C>T	ENSP00000510750.1:p.Ile247=
ENST00000355527.8:c.837C>T MANE Select	ENSP00000347717.4:p.Ile279=
ENST00000355527.7:c.837C>T	ENSP00000347717.3:p.Ile279=
ENST00000407721.6:c.837C>T	ENSP00000384739.2:p.Ile279=
ENST00000525137.1:c.204C>T	ENSP00000435956.1:p.Ile68=
ENST00000527316.5:c.741C>T	ENSP00000435047.1:p.Ile247=
ENST00000533800.5:c.87C>T	ENSP00000435011.1:p.Ile29=
ENST00000534795.5:c.193C>T
NM_001163817.1:c.837C>T	NP_001157289.1:p.Ile279=
NM_001360.2:c.837C>T , LRG_340t1:c.837C>T	NP_001351.2:p.Ile279=
XM_011544777.1:c.837C>T	XP_011543079.1:p.Ile279=
XM_011544777.2:c.837C>T	XP_011543079.1:p.Ile279=
NM_001163817.2:c.837C>T	NP_001157289.1:p.Ile279=
NM_001360.3:c.837C>T MANE Select	NP_001351.2:p.Ile279=