Canonical Allele Identifier: CA356738112
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 620600
ClinVar RCV Id: RCV000761030 RCV002343612 RCV003633542
dbSNP Id: rs1560465720
gnomAD v4: 4-41746196-C-T
MyVariant Identifiers: chr4:g.41748213C>T (hg19) chr4:g.41746196C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746196C>T , CM000666.2:g.41746196C>T GRCh38
NC_000004.11:g.41748213C>T , CM000666.1:g.41748213C>T GRCh37
NC_000004.10:g.41442970C>T NCBI36
NG_008243.1:g.7775G>A , LRG_513:g.7775G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.556G>A MANE Select ENSP00000226382.2:p.Glu186Lys
ENST00000226382.3:c.556G>A ENSP00000226382.2:p.Glu186Lys
ENST00000510424.2:n.377G>A
NM_003924.3:c.556G>A , LRG_513t1:c.556G>A NP_003915.2:p.Glu186Lys
NM_003924.4:c.556G>A MANE Select NP_003915.2:p.Glu186Lys
Search 100 bp 5'
Search 100 bp 3'