Canonical Allele Identifier: CA174812

Gene: ZNF431

Linked Data

• ClinVar Variation Id: 161801
• ClinVar RCV Id: RCV000149337
• dbSNP Id: rs193921015
• gnomAD v2: 19-21366127-G-A
• gnomAD v3: 19-21183324-G-A
• gnomAD v4: 19-21183324-G-A
• MyVariant Identifiers: chr19:g.21366127G>A (hg19) ; chr19:g.21183324G>A (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.21183324G>A , CM000681.2:g.21183324G>A	GRCh38
NC_000019.9:g.21366127G>A , CM000681.1:g.21366127G>A	GRCh37
NC_000019.8:g.21157967G>A	NCBI36
NG_051229.1:g.46316G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311048.11:c.1021G>A MANE Select	ENSP00000308578.6:p.Glu341Lys
ENST00000594425.5:c.97-6541G>A	ENSP00000469460.1:n.97-6541G>A
ENST00000600692.5:c.*608G>A	ENSP00000470668.1:n.*608G>A
NM_133473.2:c.1021G>A	NP_597730.2:p.Glu341Lys
XM_005259794.3:c.1024G>A	XP_005259851.1:p.Glu342Lys
XM_005259795.3:c.748G>A	XP_005259852.1:p.Glu250Lys
XM_005259797.3:c.748G>A	XP_005259854.1:p.Glu250Lys
XM_006722673.2:c.700G>A	XP_006722736.1:p.Glu234Lys
XM_011527749.1:c.1141G>A	XP_011526051.1:p.Glu381Lys
XM_011527750.1:c.1072G>A	XP_011526052.1:p.Glu358Lys
XM_011527751.1:c.748G>A	XP_011526053.1:p.Glu250Lys
XM_011527752.1:c.748G>A	XP_011526054.1:p.Glu250Lys
XM_011527753.1:c.748G>A	XP_011526055.1:p.Glu250Lys
XM_011527754.1:c.748G>A	XP_011526056.1:p.Glu250Lys
XM_011527755.1:c.700G>A	XP_011526057.1:p.Glu234Lys
NM_001319124.1:c.1024G>A	NP_001306053.1:p.Glu342Lys
NM_001319126.1:c.748G>A	NP_001306055.1:p.Glu250Lys
NM_001319127.1:c.700G>A	NP_001306056.1:p.Glu234Lys
NM_133473.3:c.1021G>A	NP_597730.2:p.Glu341Lys
NR_138052.1:n.1265G>A
NR_138053.1:n.1198G>A
XM_011527750.2:c.1072G>A	XP_011526052.1:p.Glu358Lys
XR_001753620.1:n.1316G>A
XR_001753621.1:n.1316G>A
NM_133473.4:c.1021G>A MANE Select	NP_597730.2:p.Glu341Lys
NM_001319124.2:c.1024G>A	NP_001306053.1:p.Glu342Lys
NM_001319126.2:c.748G>A	NP_001306055.1:p.Glu250Lys
NM_001319127.2:c.700G>A	NP_001306056.1:p.Glu234Lys
NR_138052.2:n.1235G>A
NR_138053.2:n.1168G>A