Canonical Allele Identifier: CA439143401

Gene: PHOX2B

Linked Data

• MyVariant Identifiers: chr4:g.41748259G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746242G>T , CM000666.2:g.41746242G>T	GRCh38
NC_000004.11:g.41748259G>T , CM000666.1:g.41748259G>T	GRCh37
NC_000004.10:g.41443016G>T	NCBI36
NG_008243.1:g.7729C>A , LRG_513:g.7729C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.510C>A MANE Select	ENSP00000226382.2:p.Gly170=
ENST00000226382.3:c.510C>A	ENSP00000226382.2:p.Gly170=
ENST00000510424.2:n.331C>A
NM_003924.3:c.510C>A , LRG_513t1:c.510C>A	NP_003915.2:p.Gly170=
NM_003924.4:c.510C>A MANE Select	NP_003915.2:p.Gly170=