Canonical Allele Identifier: CA356738112

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 620600
• ClinVar RCV Id: RCV000761030 ; RCV002343612 ; RCV003633542
• dbSNP Id: rs1560465720
• gnomAD v4: 4-41746196-C-T
• MyVariant Identifiers: chr4:g.41748213C>T (hg19) ; chr4:g.41746196C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746196C>T , CM000666.2:g.41746196C>T	GRCh38
NC_000004.11:g.41748213C>T , CM000666.1:g.41748213C>T	GRCh37
NC_000004.10:g.41442970C>T	NCBI36
NG_008243.1:g.7775G>A , LRG_513:g.7775G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.556G>A MANE Select	ENSP00000226382.2:p.Glu186Lys
ENST00000226382.3:c.556G>A	ENSP00000226382.2:p.Glu186Lys
ENST00000510424.2:n.377G>A
NM_003924.3:c.556G>A , LRG_513t1:c.556G>A	NP_003915.2:p.Glu186Lys
NM_003924.4:c.556G>A MANE Select	NP_003915.2:p.Glu186Lys