Canonical Allele Identifier: CA439143595
Gene: PHOX2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.41748307G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746290G>C , CM000666.2:g.41746290G>C GRCh38
NC_000004.11:g.41748307G>C , CM000666.1:g.41748307G>C GRCh37
NC_000004.10:g.41443064G>C NCBI36
NG_008243.1:g.7681C>G , LRG_513:g.7681C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.462C>G MANE Select ENSP00000226382.2:p.Arg154=
ENST00000226382.3:c.462C>G ENSP00000226382.2:p.Arg154=
ENST00000510424.2:n.283C>G
NM_003924.3:c.462C>G , LRG_513t1:c.462C>G NP_003915.2:p.Arg154=
NM_003924.4:c.462C>G MANE Select NP_003915.2:p.Arg154=
Search 100 bp 5'
Search 100 bp 3'