Canonical Allele Identifier: CA356737255

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 935491
• ClinVar RCV Id: RCV001204093 ; RCV002379774 ; RCV003324820
• dbSNP Id: rs1733882577
• gnomAD v4: 4-41746027-G-A
• MyVariant Identifiers: chr4:g.41748044G>A (hg19) ; chr4:g.41746027G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746027G>A , CM000666.2:g.41746027G>A	GRCh38
NC_000004.11:g.41748044G>A , CM000666.1:g.41748044G>A	GRCh37
NC_000004.10:g.41442801G>A	NCBI36
NG_008243.1:g.7944C>T , LRG_513:g.7944C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.725C>T MANE Select	ENSP00000226382.2:p.Ala242Val
ENST00000226382.3:c.725C>T	ENSP00000226382.2:p.Ala242Val
NM_003924.3:c.725C>T , LRG_513t1:c.725C>T	NP_003915.2:p.Ala242Val
NM_003924.4:c.725C>T MANE Select	NP_003915.2:p.Ala242Val