Canonical Allele Identifier: CA356738630
Gene: PHOX2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.41748290G>T (hg19) chr4:g.41746273G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746273G>T , CM000666.2:g.41746273G>T GRCh38
NC_000004.11:g.41748290G>T , CM000666.1:g.41748290G>T GRCh37
NC_000004.10:g.41443047G>T NCBI36
NG_008243.1:g.7698C>A , LRG_513:g.7698C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.479C>A MANE Select ENSP00000226382.2:p.Ala160Glu
ENST00000226382.3:c.479C>A ENSP00000226382.2:p.Ala160Glu
ENST00000510424.2:n.300C>A
NM_003924.3:c.479C>A , LRG_513t1:c.479C>A NP_003915.2:p.Ala160Glu
NM_003924.4:c.479C>A MANE Select NP_003915.2:p.Ala160Glu
Search 100 bp 5'
Search 100 bp 3'