Canonical Allele Identifier: CA4468141

Gene: PAX4

Linked Data

• ClinVar Variation Id: 358806
• ClinVar RCV Id: RCV000339209 ; RCV000445454 ; RCV000500229 ; RCV000998903 ; RCV003922588
• dbSNP Id: rs144792551
• ExAC: 7:127254981 G / A
• gnomAD v2: 7-127254981-G-A
• gnomAD v3: 7-127614927-G-A
• gnomAD v4: 7-127614927-G-A
• MyVariant Identifiers: chr7:g.127254981G>A (hg19) ; chr7:g.127614927G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.127614927G>A , CM000669.2:g.127614927G>A	GRCh38
NC_000007.13:g.127254981G>A , CM000669.1:g.127254981G>A	GRCh37
NC_000007.12:g.127042217G>A	NCBI36
NG_012848.1:g.5800C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639438.3:c.313C>T MANE Select	ENSP00000491782.1:p.Arg105Cys
ENST00000338516.7:c.313C>T	ENSP00000344297.4:p.Arg105Cys
ENST00000341640.6:c.289C>T	ENSP00000339906.2:p.Arg97Cys
ENST00000378740.6:c.289C>T	ENSP00000368014.3:p.Arg97Cys
ENST00000463946.5:c.283C>T	ENSP00000451923.1:p.Arg95Cys
ENST00000477423.1:n.283C>T
ENST00000483494.5:c.283C>T	ENSP00000473846.1:p.Arg95Cys
ENST00000611453.1:c.283C>T	ENSP00000477877.1:p.Arg95Cys
NM_006193.2:c.289C>T	NP_006184.2:p.Arg97Cys
XM_011516276.1:c.313C>T	XP_011514578.1:p.Arg105Cys
NM_001366110.1:c.313C>T MANE Select	NP_001353039.1:p.Arg105Cys
NM_001366111.1:c.313C>T	NP_001353040.1:p.Arg105Cys