Canonical Allele Identifier: CA439143303
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1132035
ClinVar RCV Id: RCV001466094
dbSNP Id: rs2153112805
gnomAD v4: 4-41746215-G-T
MyVariant Identifiers: chr4:g.41748232G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746215G>T , CM000666.2:g.41746215G>T GRCh38
NC_000004.11:g.41748232G>T , CM000666.1:g.41748232G>T GRCh37
NC_000004.10:g.41442989G>T NCBI36
NG_008243.1:g.7756C>A , LRG_513:g.7756C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.537C>A MANE Select ENSP00000226382.2:p.Ser179=
ENST00000226382.3:c.537C>A ENSP00000226382.2:p.Ser179=
ENST00000510424.2:n.358C>A
NM_003924.3:c.537C>A , LRG_513t1:c.537C>A NP_003915.2:p.Ser179=
NM_003924.4:c.537C>A MANE Select NP_003915.2:p.Ser179=
Search 100 bp 5'
Search 100 bp 3'