Canonical Allele Identifier: CA356738005

Gene: PHOX2B

Linked Data

• MyVariant Identifiers: chr4:g.41748204T>A (hg19) ; chr4:g.41746187T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746187T>A , CM000666.2:g.41746187T>A	GRCh38
NC_000004.11:g.41748204T>A , CM000666.1:g.41748204T>A	GRCh37
NC_000004.10:g.41442961T>A	NCBI36
NG_008243.1:g.7784A>T , LRG_513:g.7784A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.565A>T MANE Select	ENSP00000226382.2:p.Ser189Cys
ENST00000226382.3:c.565A>T	ENSP00000226382.2:p.Ser189Cys
ENST00000510424.2:n.386A>T
NM_003924.3:c.565A>T , LRG_513t1:c.565A>T	NP_003915.2:p.Ser189Cys
NM_003924.4:c.565A>T MANE Select	NP_003915.2:p.Ser189Cys