Canonical Allele Identifier: CA2901492
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1605828
ClinVar RCV Id: RCV002160151 RCV002337304
dbSNP Id: rs765027210
ExAC: 4:41748286 T / G
gnomAD v2: 4-41748286-T-G
gnomAD v4: 4-41746269-T-G
MyVariant Identifiers: chr4:g.41748286T>G (hg19) chr4:g.41746269T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746269T>G , CM000666.2:g.41746269T>G GRCh38
NC_000004.11:g.41748286T>G , CM000666.1:g.41748286T>G GRCh37
NC_000004.10:g.41443043T>G NCBI36
NG_008243.1:g.7702A>C , LRG_513:g.7702A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.483A>C MANE Select ENSP00000226382.2:p.Ala161=
ENST00000226382.3:c.483A>C ENSP00000226382.2:p.Ala161=
ENST00000510424.2:n.304A>C
NM_003924.3:c.483A>C , LRG_513t1:c.483A>C NP_003915.2:p.Ala161=
NM_003924.4:c.483A>C MANE Select NP_003915.2:p.Ala161=
Search 100 bp 5'
Search 100 bp 3'