Canonical Allele Identifier: CA16611433
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 406411
ClinVar RCV Id: RCV000476224 RCV001026141
dbSNP Id: rs917558720
gnomAD v3: 4-41746033-C-T
gnomAD v4: 4-41746033-C-T
MyVariant Identifiers: chr4:g.41748050C>T (hg19) chr4:g.41746033C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746033C>T , CM000666.2:g.41746033C>T GRCh38
NC_000004.11:g.41748050C>T , CM000666.1:g.41748050C>T GRCh37
NC_000004.10:g.41442807C>T NCBI36
NG_008243.1:g.7938G>A , LRG_513:g.7938G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.719G>A MANE Select ENSP00000226382.2:p.Gly240Asp
ENST00000226382.3:c.719G>A ENSP00000226382.2:p.Gly240Asp
ENST00000510424.2:n.540G>A
NM_003924.3:c.719G>A , LRG_513t1:c.719G>A NP_003915.2:p.Gly240Asp
NM_003924.4:c.719G>A MANE Select NP_003915.2:p.Gly240Asp
Search 100 bp 5'
Search 100 bp 3'