Canonical Allele Identifier: CA439143341

Gene: PHOX2B

Linked Data

• COSMIC: COSM376452
• MyVariant Identifiers: chr4:g.41748244C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746227C>T , CM000666.2:g.41746227C>T	GRCh38
NC_000004.11:g.41748244C>T , CM000666.1:g.41748244C>T	GRCh37
NC_000004.10:g.41443001C>T	NCBI36
NG_008243.1:g.7744G>A , LRG_513:g.7744G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.525G>A MANE Select	ENSP00000226382.2:p.Lys175=
ENST00000226382.3:c.525G>A	ENSP00000226382.2:p.Lys175=
ENST00000510424.2:n.346G>A
NM_003924.3:c.525G>A , LRG_513t1:c.525G>A	NP_003915.2:p.Lys175=
NM_003924.4:c.525G>A MANE Select	NP_003915.2:p.Lys175=