Canonical Allele Identifier: CA2901440
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 239594
ClinVar RCV Id: RCV000228402 RCV001026621 RCV001145120 RCV001358783 RCV003422142 RCV003153530
dbSNP Id: rs766767855
ExAC: 4:41748009 C / T
gnomAD v2: 4-41748009-C-T
gnomAD v3: 4-41745992-C-T
gnomAD v4: 4-41745992-C-T
MyVariant Identifiers: chr4:g.41748009C>T (hg19) chr4:g.41745992C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745992C>T , CM000666.2:g.41745992C>T GRCh38
NC_000004.11:g.41748009C>T , CM000666.1:g.41748009C>T GRCh37
NC_000004.10:g.41442766C>T NCBI36
NG_008243.1:g.7979G>A , LRG_513:g.7979G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.760G>A MANE Select ENSP00000226382.2:p.Ala254Thr
ENST00000226382.3:c.760G>A ENSP00000226382.2:p.Ala254Thr
NM_003924.3:c.760G>A , LRG_513t1:c.760G>A NP_003915.2:p.Ala254Thr
NM_003924.4:c.760G>A MANE Select NP_003915.2:p.Ala254Thr
Search 100 bp 5'
Search 100 bp 3'