Canonical Allele Identifier: CA356737221
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2445269
ClinVar RCV Id: RCV003154679
MyVariant Identifiers: chr4:g.41748029G>C (hg19) chr4:g.41746012G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746012G>C , CM000666.2:g.41746012G>C GRCh38
NC_000004.11:g.41748029G>C , CM000666.1:g.41748029G>C GRCh37
NC_000004.10:g.41442786G>C NCBI36
NG_008243.1:g.7959C>G , LRG_513:g.7959C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.740C>G MANE Select ENSP00000226382.2:p.Ala247Gly
ENST00000226382.3:c.740C>G ENSP00000226382.2:p.Ala247Gly
NM_003924.3:c.740C>G , LRG_513t1:c.740C>G NP_003915.2:p.Ala247Gly
NM_003924.4:c.740C>G MANE Select NP_003915.2:p.Ala247Gly
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