Canonical Allele Identifier: CA356737123

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 2448120
• ClinVar RCV Id: RCV003168186
• dbSNP Id: rs1260084723
• gnomAD v3: 4-41745956-C-T
• gnomAD v4: 4-41745956-C-T
• COSMIC: COSM6100483
• MyVariant Identifiers: chr4:g.41747973C>T (hg19) ; chr4:g.41745956C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745956C>T , CM000666.2:g.41745956C>T	GRCh38
NC_000004.11:g.41747973C>T , CM000666.1:g.41747973C>T	GRCh37
NC_000004.10:g.41442730C>T	NCBI36
NG_008243.1:g.8015G>A , LRG_513:g.8015G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.796G>A MANE Select	ENSP00000226382.2:p.Ala266Thr
ENST00000226382.3:c.796G>A	ENSP00000226382.2:p.Ala266Thr
NM_003924.3:c.796G>A , LRG_513t1:c.796G>A	NP_003915.2:p.Ala266Thr
NM_003924.4:c.796G>A MANE Select	NP_003915.2:p.Ala266Thr