Canonical Allele Identifier: CA356737308
Gene: PHOX2B HGNC NCBI

Linked Data

dbSNP Id: rs1468135641
gnomAD v2: 4-41748059-C-A
gnomAD v4: 4-41746042-C-A
MyVariant Identifiers: chr4:g.41748059C>A (hg19) chr4:g.41746042C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746042C>A , CM000666.2:g.41746042C>A GRCh38
NC_000004.11:g.41748059C>A , CM000666.1:g.41748059C>A GRCh37
NC_000004.10:g.41442816C>A NCBI36
NG_008243.1:g.7929G>T , LRG_513:g.7929G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.710G>T MANE Select ENSP00000226382.2:p.Gly237Val
ENST00000226382.3:c.710G>T ENSP00000226382.2:p.Gly237Val
ENST00000510424.2:n.531G>T
NM_003924.3:c.710G>T , LRG_513t1:c.710G>T NP_003915.2:p.Gly237Val
NM_003924.4:c.710G>T MANE Select NP_003915.2:p.Gly237Val
Search 100 bp 5'
Search 100 bp 3'