Canonical Allele Identifier: CA356737310
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1524671
ClinVar RCV Id: RCV002031890
dbSNP Id: rs1468135641
gnomAD v4: 4-41746042-C-G
MyVariant Identifiers: chr4:g.41748059C>G (hg19) chr4:g.41746042C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746042C>G , CM000666.2:g.41746042C>G GRCh38
NC_000004.11:g.41748059C>G , CM000666.1:g.41748059C>G GRCh37
NC_000004.10:g.41442816C>G NCBI36
NG_008243.1:g.7929G>C , LRG_513:g.7929G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.710G>C MANE Select ENSP00000226382.2:p.Gly237Ala
ENST00000226382.3:c.710G>C ENSP00000226382.2:p.Gly237Ala
ENST00000510424.2:n.531G>C
NM_003924.3:c.710G>C , LRG_513t1:c.710G>C NP_003915.2:p.Gly237Ala
NM_003924.4:c.710G>C MANE Select NP_003915.2:p.Gly237Ala
Search 100 bp 5'
Search 100 bp 3'