Canonical Allele Identifier: CA10628097

Gene: PAX4

Linked Data

• ClinVar Variation Id: 358789
• ClinVar RCV Id: RCV000348262
• dbSNP Id: rs327519
• gnomAD v2: 7-127250716-A-G
• gnomAD v3: 7-127610662-A-G
• gnomAD v4: 7-127610662-A-G
• MyVariant Identifiers: chr7:g.127250716A>G (hg19) ; chr7:g.127610662A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.127610662A>G , CM000669.2:g.127610662A>G	GRCh38
NC_000007.13:g.127250716A>G , CM000669.1:g.127250716A>G	GRCh37
NC_000007.12:g.127037952A>G	NCBI36
NG_012848.1:g.10065T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639438.3:c.*402T>C MANE Select	ENSP00000491782.1:n.*402T>C
ENST00000341640.6:c.*402T>C	ENSP00000339906.2:n.*402T>C
NM_006193.2:c.*402T>C	NP_006184.2:n.*402T>C
NM_001366110.1:c.*402T>C MANE Select	NP_001353039.1:n.*402T>C
NM_001366111.1:c.*190T>C	NP_001353040.1:n.*190T>C