Canonical Allele Identifier: CA356737061
Gene: PHOX2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.41747942C>T (hg19) chr4:g.41745925C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745925C>T , CM000666.2:g.41745925C>T GRCh38
NC_000004.11:g.41747942C>T , CM000666.1:g.41747942C>T GRCh37
NC_000004.10:g.41442699C>T NCBI36
NG_008243.1:g.8046G>A , LRG_513:g.8046G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.827G>A MANE Select ENSP00000226382.2:p.Gly276Asp
ENST00000226382.3:c.827G>A ENSP00000226382.2:p.Gly276Asp
NM_003924.3:c.827G>A , LRG_513t1:c.827G>A NP_003915.2:p.Gly276Asp
NM_003924.4:c.827G>A MANE Select NP_003915.2:p.Gly276Asp
Search 100 bp 5'
Search 100 bp 3'