Canonical Allele Identifier: CA2901487

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 566918
• ClinVar RCV Id: RCV002233142 ; RCV002334257
• dbSNP Id: rs774521395
• ExAC: 4:41748272 G / A
• gnomAD v2: 4-41748272-G-A
• gnomAD v4: 4-41746255-G-A
• COSMIC: COSM4625305
• MyVariant Identifiers: chr4:g.41748272G>A (hg19) ; chr4:g.41746255G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746255G>A , CM000666.2:g.41746255G>A	GRCh38
NC_000004.11:g.41748272G>A , CM000666.1:g.41748272G>A	GRCh37
NC_000004.10:g.41443029G>A	NCBI36
NG_008243.1:g.7716C>T , LRG_513:g.7716C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.497C>T MANE Select	ENSP00000226382.2:p.Ala166Val
ENST00000226382.3:c.497C>T	ENSP00000226382.2:p.Ala166Val
ENST00000510424.2:n.318C>T
NM_003924.3:c.497C>T , LRG_513t1:c.497C>T	NP_003915.2:p.Ala166Val
NM_003924.4:c.497C>T MANE Select	NP_003915.2:p.Ala166Val