Canonical Allele Identifier: CA356738504
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 959613
ClinVar RCV Id: RCV001232997 RCV003473801
dbSNP Id: rs1338837491
gnomAD v2: 4-41748270-C-T
gnomAD v4: 4-41746253-C-T
COSMIC: COSM4124750
MyVariant Identifiers: chr4:g.41748270C>T (hg19) chr4:g.41746253C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746253C>T , CM000666.2:g.41746253C>T GRCh38
NC_000004.11:g.41748270C>T , CM000666.1:g.41748270C>T GRCh37
NC_000004.10:g.41443027C>T NCBI36
NG_008243.1:g.7718G>A , LRG_513:g.7718G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.499G>A MANE Select ENSP00000226382.2:p.Ala167Thr
ENST00000226382.3:c.499G>A ENSP00000226382.2:p.Ala167Thr
ENST00000510424.2:n.320G>A
NM_003924.3:c.499G>A , LRG_513t1:c.499G>A NP_003915.2:p.Ala167Thr
NM_003924.4:c.499G>A MANE Select NP_003915.2:p.Ala167Thr
Search 100 bp 5'
Search 100 bp 3'