Canonical Allele Identifier: CA356738091

Gene: PHOX2B

Linked Data

• MyVariant Identifiers: chr4:g.41748212T>A (hg19) ; chr4:g.41746195T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746195T>A , CM000666.2:g.41746195T>A	GRCh38
NC_000004.11:g.41748212T>A , CM000666.1:g.41748212T>A	GRCh37
NC_000004.10:g.41442969T>A	NCBI36
NG_008243.1:g.7776A>T , LRG_513:g.7776A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.557A>T MANE Select	ENSP00000226382.2:p.Glu186Val
ENST00000226382.3:c.557A>T	ENSP00000226382.2:p.Glu186Val
ENST00000510424.2:n.378A>T
NM_003924.3:c.557A>T , LRG_513t1:c.557A>T	NP_003915.2:p.Glu186Val
NM_003924.4:c.557A>T MANE Select	NP_003915.2:p.Glu186Val