Canonical Allele Identifier: CA161478

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 135034
• ClinVar RCV Id: RCV000121807 ; RCV000757604 ; RCV002354308 ; RCV001210723
• dbSNP Id: rs587778606
• ExAC: 4:41748152 G / C
• gnomAD v2: 4-41748152-G-C
• gnomAD v3: 4-41746135-G-C
• gnomAD v4: 4-41746135-G-C
• MyVariant Identifiers: chr4:g.41748152G>C (hg19) ; chr4:g.41746135G>C (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746135G>C , CM000666.2:g.41746135G>C	GRCh38
NC_000004.11:g.41748152G>C , CM000666.1:g.41748152G>C	GRCh37
NC_000004.10:g.41442909G>C	NCBI36
NG_008243.1:g.7836C>G , LRG_513:g.7836C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.617C>G MANE Select	ENSP00000226382.2:p.Pro206Arg
ENST00000226382.3:c.617C>G	ENSP00000226382.2:p.Pro206Arg
ENST00000510424.2:n.438C>G
NM_003924.3:c.617C>G , LRG_513t1:c.617C>G	NP_003915.2:p.Pro206Arg
NM_003924.4:c.617C>G MANE Select	NP_003915.2:p.Pro206Arg