Canonical Allele Identifier: CA2901490

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 486031
• ClinVar RCV Id: RCV000571581 ; RCV000643955 ; RCV001147964 ; RCV001450058
• dbSNP Id: rs547677836
• ExAC: 4:41748283 G / A
• gnomAD v2: 4-41748283-G-A
• gnomAD v3: 4-41746266-G-A
• gnomAD v4: 4-41746266-G-A
• MyVariant Identifiers: chr4:g.41748283G>A (hg19) ; chr4:g.41746266G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746266G>A , CM000666.2:g.41746266G>A	GRCh38
NC_000004.11:g.41748283G>A , CM000666.1:g.41748283G>A	GRCh37
NC_000004.10:g.41443040G>A	NCBI36
NG_008243.1:g.7705C>T , LRG_513:g.7705C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.486C>T MANE Select	ENSP00000226382.2:p.Ala162=
ENST00000226382.3:c.486C>T	ENSP00000226382.2:p.Ala162=
ENST00000510424.2:n.307C>T
NM_003924.3:c.486C>T , LRG_513t1:c.486C>T	NP_003915.2:p.Ala162=
NM_003924.4:c.486C>T MANE Select	NP_003915.2:p.Ala162=