Canonical Allele Identifier: CA356737899
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2124720
ClinVar RCV Id: RCV003039756
MyVariant Identifiers: chr4:g.41748188C>T (hg19) chr4:g.41746171C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746171C>T , CM000666.2:g.41746171C>T GRCh38
NC_000004.11:g.41748188C>T , CM000666.1:g.41748188C>T GRCh37
NC_000004.10:g.41442945C>T NCBI36
NG_008243.1:g.7800G>A , LRG_513:g.7800G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.581G>A MANE Select ENSP00000226382.2:p.Ser194Asn
ENST00000226382.3:c.581G>A ENSP00000226382.2:p.Ser194Asn
ENST00000510424.2:n.402G>A
NM_003924.3:c.581G>A , LRG_513t1:c.581G>A NP_003915.2:p.Ser194Asn
NM_003924.4:c.581G>A MANE Select NP_003915.2:p.Ser194Asn
Search 100 bp 5'
Search 100 bp 3'