Canonical Allele Identifier: CA356737002

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 2997666
• ClinVar RCV Id: RCV003854265 ; RCV004369490
• gnomAD v4: 4-41745904-A-G
• MyVariant Identifiers: chr4:g.41747921A>G (hg19) ; chr4:g.41745904A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745904A>G , CM000666.2:g.41745904A>G	GRCh38
NC_000004.11:g.41747921A>G , CM000666.1:g.41747921A>G	GRCh37
NC_000004.10:g.41442678A>G	NCBI36
NG_008243.1:g.8067T>C , LRG_513:g.8067T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.848T>C MANE Select	ENSP00000226382.2:p.Ile283Thr
ENST00000226382.3:c.848T>C	ENSP00000226382.2:p.Ile283Thr
NM_003924.3:c.848T>C , LRG_513t1:c.848T>C	NP_003915.2:p.Ile283Thr
NM_003924.4:c.848T>C MANE Select	NP_003915.2:p.Ile283Thr