Canonical Allele Identifier: CA439143050
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1759262
ClinVar RCV Id: RCV002393762
gnomAD v4: 4-41746002-C-G
MyVariant Identifiers: chr4:g.41748019C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746002C>G , CM000666.2:g.41746002C>G GRCh38
NC_000004.11:g.41748019C>G , CM000666.1:g.41748019C>G GRCh37
NC_000004.10:g.41442776C>G NCBI36
NG_008243.1:g.7969G>C , LRG_513:g.7969G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.750G>C MANE Select ENSP00000226382.2:p.Ala250=
ENST00000226382.3:c.750G>C ENSP00000226382.2:p.Ala250=
NM_003924.3:c.750G>C , LRG_513t1:c.750G>C NP_003915.2:p.Ala250=
NM_003924.4:c.750G>C MANE Select NP_003915.2:p.Ala250=
Search 100 bp 5'
Search 100 bp 3'