Canonical Allele Identifier: CA161475
Gene: PHOX2B HGNC NCBI
PHOX2B-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 135033
ClinVar RCV Id: RCV000121806 RCV001344362 RCV002354307
dbSNP Id: rs587778605
gnomAD v3: 4-41748552-C-G
gnomAD v4: 4-41748552-C-G
MyVariant Identifiers: chr4:g.41750569C>G (hg19) chr4:g.41748552C>G (hg38)
PubMed: PMID:24728327
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41748552C>G , CM000666.2:g.41748552C>G GRCh38
NC_000004.11:g.41750569C>G , CM000666.1:g.41750569C>G GRCh37
NC_000004.10:g.41445326C>G NCBI36
NG_008243.1:g.5419G>C , LRG_513:g.5419G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.59G>C (PHOX2B) MANE Select ENSP00000226382.2:p.Gly20Ala
ENST00000226382.3:c.59G>C (PHOX2B) ENSP00000226382.2:p.Gly20Ala
NM_003924.3:c.59G>C , LRG_513t1:c.59G>C (PHOX2B) NP_003915.2:p.Gly20Ala
XR_001741668.1:n.260C>G (PHOX2B-AS1)
XR_001741669.1:n.260C>G (PHOX2B-AS1)
XR_001741670.1:n.260C>G (PHOX2B-AS1)
XR_001741671.1:n.260C>G (PHOX2B-AS1)
XR_925256.2:n.260C>G (PHOX2B-AS1)
NM_003924.4:c.59G>C (PHOX2B) MANE Select NP_003915.2:p.Gly20Ala
Search 100 bp 5'
Search 100 bp 3'