Canonical Allele Identifier: CA95828452

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 535786
• ClinVar RCV Id: RCV000643962 ; RCV002256434
• dbSNP Id: rs1018522821
• gnomAD v2: 4-41748010-C-T
• gnomAD v3: 4-41745993-C-T
• gnomAD v4: 4-41745993-C-T
• MyVariant Identifiers: chr4:g.41748010C>T (hg19) ; chr4:g.41748010_41748028delinsTGCCGCCGCCGCTGCCGCG (hg19) ; chr4:g.41745993C>T (hg38) ; chr4:g.41745993_41746011delinsTGCCGCCGCCGCTGCCGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745993C>T , CM000666.2:g.41745993C>T	GRCh38
NC_000004.11:g.41748010C>T , CM000666.1:g.41748010C>T	GRCh37
NC_000004.10:g.41442767C>T	NCBI36
NG_008243.1:g.7978G>A , LRG_513:g.7978G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.759G>A MANE Select	ENSP00000226382.2:p.Ala253=
ENST00000226382.3:c.759G>A	ENSP00000226382.2:p.Ala253=
NM_003924.3:c.759G>A , LRG_513t1:c.759G>A	NP_003915.2:p.Ala253=
NM_003924.4:c.759G>A MANE Select	NP_003915.2:p.Ala253=