Canonical Allele Identifier: CA356737247
Gene: PHOX2B HGNC NCBI

Linked Data

gnomAD v4: 4-41746024-G-T
MyVariant Identifiers: chr4:g.41748041G>T (hg19) chr4:g.41746024G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746024G>T , CM000666.2:g.41746024G>T GRCh38
NC_000004.11:g.41748041G>T , CM000666.1:g.41748041G>T GRCh37
NC_000004.10:g.41442798G>T NCBI36
NG_008243.1:g.7947C>A , LRG_513:g.7947C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.728C>A MANE Select ENSP00000226382.2:p.Ala243Glu
ENST00000226382.3:c.728C>A ENSP00000226382.2:p.Ala243Glu
NM_003924.3:c.728C>A , LRG_513t1:c.728C>A NP_003915.2:p.Ala243Glu
NM_003924.4:c.728C>A MANE Select NP_003915.2:p.Ala243Glu
Search 100 bp 5'
Search 100 bp 3'