Canonical Allele Identifier: CA356738235
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1720133
ClinVar RCV Id: RCV002297949
MyVariant Identifiers: chr4:g.41748226G>C (hg19) chr4:g.41746209G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746209G>C , CM000666.2:g.41746209G>C GRCh38
NC_000004.11:g.41748226G>C , CM000666.1:g.41748226G>C GRCh37
NC_000004.10:g.41442983G>C NCBI36
NG_008243.1:g.7762C>G , LRG_513:g.7762C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.543C>G MANE Select ENSP00000226382.2:p.Asp181Glu
ENST00000226382.3:c.543C>G ENSP00000226382.2:p.Asp181Glu
ENST00000510424.2:n.364C>G
NM_003924.3:c.543C>G , LRG_513t1:c.543C>G NP_003915.2:p.Asp181Glu
NM_003924.4:c.543C>G MANE Select NP_003915.2:p.Asp181Glu
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