Canonical Allele Identifier: CA2901410

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 1762755
• ClinVar RCV Id: RCV002430266 ; RCV003517406
• dbSNP Id: rs761077266
• ExAC: 4:41747941 G / A
• gnomAD v2: 4-41747941-G-A
• gnomAD v4: 4-41745924-G-A
• MyVariant Identifiers: chr4:g.41747941G>A (hg19) ; chr4:g.41745924G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745924G>A , CM000666.2:g.41745924G>A	GRCh38
NC_000004.11:g.41747941G>A , CM000666.1:g.41747941G>A	GRCh37
NC_000004.10:g.41442698G>A	NCBI36
NG_008243.1:g.8047C>T , LRG_513:g.8047C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.828C>T MANE Select	ENSP00000226382.2:p.Gly276=
ENST00000226382.3:c.828C>T	ENSP00000226382.2:p.Gly276=
NM_003924.3:c.828C>T , LRG_513t1:c.828C>T	NP_003915.2:p.Gly276=
NM_003924.4:c.828C>T MANE Select	NP_003915.2:p.Gly276=