Canonical Allele Identifier: CA356738810
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 869128
ClinVar RCV Id: RCV001078157 RCV004031214
dbSNP Id: rs1733899167
MyVariant Identifiers: chr4:g.41748323C>A (hg19) chr4:g.41746306C>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.446G>T MANE Select ENSP00000226382.2:p.Arg149Leu
ENST00000226382.3:c.446G>T ENSP00000226382.2:p.Arg149Leu
ENST00000510424.2:n.267G>T
NM_003924.3:c.446G>T , LRG_513t1:c.446G>T NP_003915.2:p.Arg149Leu
NM_003924.4:c.446G>T MANE Select NP_003915.2:p.Arg149Leu
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