Canonical Allele Identifier: CA16611442
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 406402
ClinVar RCV Id: RCV000460937 RCV002223209 RCV002365623 RCV003476026
dbSNP Id: rs1060501118
gnomAD v2: 4-41748099-G-T
gnomAD v3: 4-41746082-G-T
gnomAD v4: 4-41746082-G-T
MyVariant Identifiers: chr4:g.41748099G>T (hg19) chr4:g.41746082G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746082G>T , CM000666.2:g.41746082G>T GRCh38
NC_000004.11:g.41748099G>T , CM000666.1:g.41748099G>T GRCh37
NC_000004.10:g.41442856G>T NCBI36
NG_008243.1:g.7889C>A , LRG_513:g.7889C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.670C>A MANE Select ENSP00000226382.2:p.Pro224Thr
ENST00000226382.3:c.670C>A ENSP00000226382.2:p.Pro224Thr
ENST00000510424.2:n.491C>A
NM_003924.3:c.670C>A , LRG_513t1:c.670C>A NP_003915.2:p.Pro224Thr
NM_003924.4:c.670C>A MANE Select NP_003915.2:p.Pro224Thr
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