Canonical Allele Identifier: CA123475
Gene: PAX4 HGNC NCBI
COSMIC:
COSM4988116 (not active)
COSM4988117 (not active)
MyVariant.info:
GRCh38 chr7:g.127614497G>A
GRCh37 chr7:g.127254551G>A
Revel Score:
ENST00000341640 0.318
ENST00000338516 0.318
ENST00000378740 0.318
ENST00000463946 0.318
gnomAD v2:
7:127254551 G / A
gnomAD v3:
7:127614497 G / A
gnomAD v4:
chr7-127614497-G-A
Joint Max Group AF 0.08272026 (AFR)
Genomes Max Group AF 0.08040167 (AFR)
Exomes Max Group AF 0.08401092 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.127614497G>A , CM000669.2:g.127614497G>A GRCh38
NC_000007.13:g.127254551G>A , CM000669.1:g.127254551G>A GRCh37
NC_000007.12:g.127041787G>A NCBI36
NG_012848.1:g.6230C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000639438.3:c.421C>T MANE Select ENSP00000491782.1:p.Arg141Trp
ENST00000338516.7:c.421C>T ENSP00000344297.4:p.Arg141Trp
ENST00000341640.6:c.397C>T ENSP00000339906.2:p.Arg133Trp
ENST00000378740.6:c.397C>T ENSP00000368014.3:p.Arg133Trp
ENST00000463946.5:c.391C>T ENSP00000451923.1:p.Arg131Trp
ENST00000477423.1:n.391C>T
ENST00000483494.5:c.391C>T ENSP00000473846.1:p.Arg131Trp
ENST00000611453.1:c.391C>T ENSP00000477877.1:p.Arg131Trp
NM_006193.2:c.397C>T NP_006184.2:p.Arg133Trp
XM_011516276.1:c.421C>T XP_011514578.1:p.Arg141Trp
NM_001366110.1:c.421C>T MANE Select NP_001353039.1:p.Arg141Trp
NM_001366111.1:c.421C>T NP_001353040.1:p.Arg141Trp
Search 100 bp 5'
Search 100 bp 3'