Canonical Allele Identifier: CA356737357
Gene: PHOX2B HGNC NCBI

Linked Data

gnomAD v4: 4-41746055-C-A
MyVariant Identifiers: chr4:g.41748072C>A (hg19) chr4:g.41746055C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746055C>A , CM000666.2:g.41746055C>A GRCh38
NC_000004.11:g.41748072C>A , CM000666.1:g.41748072C>A GRCh37
NC_000004.10:g.41442829C>A NCBI36
NG_008243.1:g.7916G>T , LRG_513:g.7916G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.697G>T MANE Select ENSP00000226382.2:p.Gly233Ter
ENST00000226382.3:c.697G>T ENSP00000226382.2:p.Gly233Ter
ENST00000510424.2:n.518G>T
NM_003924.3:c.697G>T , LRG_513t1:c.697G>T NP_003915.2:p.Gly233Ter
NM_003924.4:c.697G>T MANE Select NP_003915.2:p.Gly233Ter
Search 100 bp 5'
Search 100 bp 3'