Canonical Allele Identifier: CA356737101
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 648649
dbSNP Id: rs1577558821
gnomAD v4: 4-41745943-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745943C>A , CM000666.2:g.41745943C>A GRCh38
NC_000004.11:g.41747960C>A , CM000666.1:g.41747960C>A GRCh37
NC_000004.10:g.41442717C>A NCBI36
NG_008243.1:g.8028G>T , LRG_513:g.8028G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.809G>T MANE Select ENSP00000226382.2:p.Gly270Val
ENST00000226382.3:c.809G>T ENSP00000226382.2:p.Gly270Val
NM_003924.3:c.809G>T , LRG_513t1:c.809G>T NP_003915.2:p.Gly270Val
NM_003924.4:c.809G>T MANE Select NP_003915.2:p.Gly270Val