Canonical Allele Identifier: CA356738504

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 959613
• ClinVar RCV Id: RCV001232997 ; RCV003473801
• dbSNP Id: rs1338837491
• gnomAD v2: 4-41748270-C-T
• gnomAD v4: 4-41746253-C-T
• COSMIC: COSM4124750
• MyVariant Identifiers: chr4:g.41748270C>T (hg19) ; chr4:g.41746253C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746253C>T , CM000666.2:g.41746253C>T	GRCh38
NC_000004.11:g.41748270C>T , CM000666.1:g.41748270C>T	GRCh37
NC_000004.10:g.41443027C>T	NCBI36
NG_008243.1:g.7718G>A , LRG_513:g.7718G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.499G>A MANE Select	ENSP00000226382.2:p.Ala167Thr
ENST00000226382.3:c.499G>A	ENSP00000226382.2:p.Ala167Thr
ENST00000510424.2:n.320G>A
NM_003924.3:c.499G>A , LRG_513t1:c.499G>A	NP_003915.2:p.Ala167Thr
NM_003924.4:c.499G>A MANE Select	NP_003915.2:p.Ala167Thr