Canonical Allele Identifier: CA356737916
Gene: PHOX2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.41748191T>A (hg19) chr4:g.41746174T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746174T>A , CM000666.2:g.41746174T>A GRCh38
NC_000004.11:g.41748191T>A , CM000666.1:g.41748191T>A GRCh37
NC_000004.10:g.41442948T>A NCBI36
NG_008243.1:g.7797A>T , LRG_513:g.7797A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000226382.4:c.578A>T MANE Select ENSP00000226382.2:p.Asp193Val
ENST00000226382.3:c.578A>T ENSP00000226382.2:p.Asp193Val
ENST00000510424.2:n.399A>T
NM_003924.3:c.578A>T , LRG_513t1:c.578A>T NP_003915.2:p.Asp193Val
NM_003924.4:c.578A>T MANE Select NP_003915.2:p.Asp193Val
Search 100 bp 5'
Search 100 bp 3'