Canonical Allele Identifier: CA439143103
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1757986
ClinVar RCV Id: RCV002382561
dbSNP Id: rs757355779
MyVariant Identifiers: chr4:g.41748043T>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746026T>G , CM000666.2:g.41746026T>G GRCh38
NC_000004.11:g.41748043T>G , CM000666.1:g.41748043T>G GRCh37
NC_000004.10:g.41442800T>G NCBI36
NG_008243.1:g.7945A>C , LRG_513:g.7945A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.726A>C MANE Select ENSP00000226382.2:p.Ala242=
ENST00000226382.3:c.726A>C ENSP00000226382.2:p.Ala242=
NM_003924.3:c.726A>C , LRG_513t1:c.726A>C NP_003915.2:p.Ala242=
NM_003924.4:c.726A>C MANE Select NP_003915.2:p.Ala242=
Search 100 bp 5'
Search 100 bp 3'