Canonical Allele Identifier: CA356738814
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2123087
ClinVar RCV Id: RCV003054902
MyVariant Identifiers: chr4:g.41748323C>T (hg19) chr4:g.41746306C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746306C>T , CM000666.2:g.41746306C>T GRCh38
NC_000004.11:g.41748323C>T , CM000666.1:g.41748323C>T GRCh37
NC_000004.10:g.41443080C>T NCBI36
NG_008243.1:g.7665G>A , LRG_513:g.7665G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.446G>A MANE Select ENSP00000226382.2:p.Arg149His
ENST00000226382.3:c.446G>A ENSP00000226382.2:p.Arg149His
ENST00000510424.2:n.267G>A
NM_003924.3:c.446G>A , LRG_513t1:c.446G>A NP_003915.2:p.Arg149His
NM_003924.4:c.446G>A MANE Select NP_003915.2:p.Arg149His
Search 100 bp 5'
Search 100 bp 3'