Canonical Allele Identifier: CA439142859
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2124493
ClinVar RCV Id: RCV003057187
gnomAD v4: 4-41746047-T-C
MyVariant Identifiers: chr4:g.41748064T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746047T>C , CM000666.2:g.41746047T>C GRCh38
NC_000004.11:g.41748064T>C , CM000666.1:g.41748064T>C GRCh37
NC_000004.10:g.41442821T>C NCBI36
NG_008243.1:g.7924A>G , LRG_513:g.7924A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.705A>G MANE Select ENSP00000226382.2:p.Glu235=
ENST00000226382.3:c.705A>G ENSP00000226382.2:p.Glu235=
ENST00000510424.2:n.526A>G
NM_003924.3:c.705A>G , LRG_513t1:c.705A>G NP_003915.2:p.Glu235=
NM_003924.4:c.705A>G MANE Select NP_003915.2:p.Glu235=
Search 100 bp 5'
Search 100 bp 3'