Canonical Allele Identifier: CA439142770
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1132326
ClinVar RCV Id: RCV001466508
dbSNP Id: rs17881486
gnomAD v4: 4-41746302-G-A
MyVariant Identifiers: chr4:g.41748319G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746302G>A , CM000666.2:g.41746302G>A GRCh38
NC_000004.11:g.41748319G>A , CM000666.1:g.41748319G>A GRCh37
NC_000004.10:g.41443076G>A NCBI36
NG_008243.1:g.7669C>T , LRG_513:g.7669C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.450C>T MANE Select ENSP00000226382.2:p.Arg150=
ENST00000226382.3:c.450C>T ENSP00000226382.2:p.Arg150=
ENST00000510424.2:n.271C>T
NM_003924.3:c.450C>T , LRG_513t1:c.450C>T NP_003915.2:p.Arg150=
NM_003924.4:c.450C>T MANE Select NP_003915.2:p.Arg150=
Search 100 bp 5'
Search 100 bp 3'