Canonical Allele Identifier: CA10618729

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 348780
• ClinVar RCV Id: RCV000262442 ; RCV000319876
• dbSNP Id: rs1063611
• gnomAD v2: 4-41746162-T-A
• gnomAD v3: 4-41744145-T-A
• gnomAD v4: 4-41744145-T-A
• MyVariant Identifiers: chr4:g.41746162T>A (hg19) ; chr4:g.41744145T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41744145T>A , CM000666.2:g.41744145T>A	GRCh38
NC_000004.11:g.41746162T>A , CM000666.1:g.41746162T>A	GRCh37
NC_000004.10:g.41440919T>A	NCBI36
NG_008243.1:g.9826A>T , LRG_513:g.9826A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.*1662A>T MANE Select	ENSP00000226382.2:n.*1662A>T
ENST00000226382.3:c.*1662A>T	ENSP00000226382.2:n.*1662A>T
NM_003924.3:c.*1662A>T , LRG_513t1:c.*1662A>T	NP_003915.2:n.*1662A>T
NM_003924.4:c.*1662A>T MANE Select	NP_003915.2:n.*1662A>T