Canonical Allele Identifier: CA356737391
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 934088
ClinVar RCV Id: RCV001202422 RCV003163521
dbSNP Id: rs1733884523
gnomAD v4: 4-41746064-C-T
MyVariant Identifiers: chr4:g.41748081C>T (hg19) chr4:g.41746064C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746064C>T , CM000666.2:g.41746064C>T GRCh38
NC_000004.11:g.41748081C>T , CM000666.1:g.41748081C>T GRCh37
NC_000004.10:g.41442838C>T NCBI36
NG_008243.1:g.7907G>A , LRG_513:g.7907G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.688G>A MANE Select ENSP00000226382.2:p.Gly230Arg
ENST00000226382.3:c.688G>A ENSP00000226382.2:p.Gly230Arg
ENST00000510424.2:n.509G>A
NM_003924.3:c.688G>A , LRG_513t1:c.688G>A NP_003915.2:p.Gly230Arg
NM_003924.4:c.688G>A MANE Select NP_003915.2:p.Gly230Arg
Search 100 bp 5'
Search 100 bp 3'