Canonical Allele Identifier: CA356738065
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 568845
dbSNP Id: rs1191400815
gnomAD v2: 4-41748209-G-T
gnomAD v4: 4-41746192-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746192G>T , CM000666.2:g.41746192G>T GRCh38
NC_000004.11:g.41748209G>T , CM000666.1:g.41748209G>T GRCh37
NC_000004.10:g.41442966G>T NCBI36
NG_008243.1:g.7779C>A , LRG_513:g.7779C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.560C>A MANE Select ENSP00000226382.2:p.Ala187Asp
ENST00000226382.3:c.560C>A ENSP00000226382.2:p.Ala187Asp
ENST00000510424.2:n.381C>A
NM_003924.3:c.560C>A , LRG_513t1:c.560C>A NP_003915.2:p.Ala187Asp
NM_003924.4:c.560C>A MANE Select NP_003915.2:p.Ala187Asp