Canonical Allele Identifier: CA439143533
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1743015
ClinVar RCV Id: RCV002330675
dbSNP Id: rs1474954713
gnomAD v2: 4-41748292-T-G
gnomAD v4: 4-41746275-T-G
MyVariant Identifiers: chr4:g.41748292T>G (hg19) chr4:g.41746275T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746275T>G , CM000666.2:g.41746275T>G GRCh38
NC_000004.11:g.41748292T>G , CM000666.1:g.41748292T>G GRCh37
NC_000004.10:g.41443049T>G NCBI36
NG_008243.1:g.7696A>C , LRG_513:g.7696A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.477A>C MANE Select ENSP00000226382.2:p.Ala159=
ENST00000226382.3:c.477A>C ENSP00000226382.2:p.Ala159=
ENST00000510424.2:n.298A>C
NM_003924.3:c.477A>C , LRG_513t1:c.477A>C NP_003915.2:p.Ala159=
NM_003924.4:c.477A>C MANE Select NP_003915.2:p.Ala159=
Search 100 bp 5'
Search 100 bp 3'