Canonical Allele Identifier: CA356737289
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 826872
ClinVar RCV Id: RCV001026099
dbSNP Id: rs1577559055
gnomAD v4: 4-41746037-C-A
MyVariant Identifiers: chr4:g.41748054C>A (hg19) chr4:g.41746037C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746037C>A , CM000666.2:g.41746037C>A GRCh38
NC_000004.11:g.41748054C>A , CM000666.1:g.41748054C>A GRCh37
NC_000004.10:g.41442811C>A NCBI36
NG_008243.1:g.7934G>T , LRG_513:g.7934G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.715G>T MANE Select ENSP00000226382.2:p.Gly239Cys
ENST00000226382.3:c.715G>T ENSP00000226382.2:p.Gly239Cys
ENST00000510424.2:n.536G>T
NM_003924.3:c.715G>T , LRG_513t1:c.715G>T NP_003915.2:p.Gly239Cys
NM_003924.4:c.715G>T MANE Select NP_003915.2:p.Gly239Cys
Search 100 bp 5'
Search 100 bp 3'