Canonical Allele Identifier: CA123473

Gene: PAX4

Linked Data

• ClinVar Variation Id: 13790
• ClinVar RCV Id: RCV000014800 ; RCV001851858 ; RCV002227035 ; RCV002247339
• dbSNP Id: rs114202595
• ExAC: 7:127254587 G / A
• gnomAD v2: 7-127254587-G-A
• gnomAD v3: 7-127614533-G-A
• gnomAD v4: 7-127614533-G-A
• MyVariant Identifiers: chr7:g.127254587G>A (hg19) ; chr7:g.127614533G>A (hg38)
• PubMed: PMID:11723072

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.127614533G>A , CM000669.2:g.127614533G>A	GRCh38
NC_000007.13:g.127254587G>A , CM000669.1:g.127254587G>A	GRCh37
NC_000007.12:g.127041823G>A	NCBI36
NG_012848.1:g.6194C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000639438.3:c.385C>T MANE Select	ENSP00000491782.1:p.Arg129Trp
ENST00000338516.7:c.385C>T	ENSP00000344297.4:p.Arg129Trp
ENST00000341640.6:c.361C>T	ENSP00000339906.2:p.Arg121Trp
ENST00000378740.6:c.361C>T	ENSP00000368014.3:p.Arg121Trp
ENST00000463946.5:c.355C>T	ENSP00000451923.1:p.Arg119Trp
ENST00000477423.1:n.355C>T
ENST00000483494.5:c.355C>T	ENSP00000473846.1:p.Arg119Trp
ENST00000611453.1:c.355C>T	ENSP00000477877.1:p.Arg119Trp
NM_006193.2:c.361C>T	NP_006184.2:p.Arg121Trp
XM_011516276.1:c.385C>T	XP_011514578.1:p.Arg129Trp
NM_001366110.1:c.385C>T MANE Select	NP_001353039.1:p.Arg129Trp
NM_001366111.1:c.385C>T	NP_001353040.1:p.Arg129Trp