Canonical Allele Identifier: CA439143462
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 467730
ClinVar RCV Id: RCV000528627 RCV002341359
dbSNP Id: rs1333598816
gnomAD v2: 4-41748274-G-A
gnomAD v4: 4-41746257-G-A
MyVariant Identifiers: chr4:g.41748274G>A (hg19) chr4:g.41746257G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746257G>A , CM000666.2:g.41746257G>A GRCh38
NC_000004.11:g.41748274G>A , CM000666.1:g.41748274G>A GRCh37
NC_000004.10:g.41443031G>A NCBI36
NG_008243.1:g.7714C>T , LRG_513:g.7714C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.495C>T MANE Select ENSP00000226382.2:p.Ala165=
ENST00000226382.3:c.495C>T ENSP00000226382.2:p.Ala165=
ENST00000510424.2:n.316C>T
NM_003924.3:c.495C>T , LRG_513t1:c.495C>T NP_003915.2:p.Ala165=
NM_003924.4:c.495C>T MANE Select NP_003915.2:p.Ala165=
Search 100 bp 5'
Search 100 bp 3'