Canonical Allele Identifier: CA356738483

Gene: PHOX2B

Linked Data

• MyVariant Identifiers: chr4:g.41748266T>G (hg19) ; chr4:g.41746249T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746249T>G , CM000666.2:g.41746249T>G	GRCh38
NC_000004.11:g.41748266T>G , CM000666.1:g.41748266T>G	GRCh37
NC_000004.10:g.41443023T>G	NCBI36
NG_008243.1:g.7722A>C , LRG_513:g.7722A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.503A>C MANE Select	ENSP00000226382.2:p.Lys168Thr
ENST00000226382.3:c.503A>C	ENSP00000226382.2:p.Lys168Thr
ENST00000510424.2:n.324A>C
NM_003924.3:c.503A>C , LRG_513t1:c.503A>C	NP_003915.2:p.Lys168Thr
NM_003924.4:c.503A>C MANE Select	NP_003915.2:p.Lys168Thr