Canonical Allele Identifier: CA177628

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 164944
• ClinVar RCV Id: RCV000151648 ; RCV000231595 ; RCV000575949 ; RCV000587434 ; RCV001145119 ; RCV001507116
• dbSNP Id: rs17884724
• ExAC: 4:41748007 T / G
• gnomAD v2: 4-41748007-T-G
• gnomAD v3: 4-41745990-T-G
• gnomAD v4: 4-41745990-T-G
• MyVariant Identifiers: chr4:g.41748007T>G (hg19) ; chr4:g.41748007_41748028delinsGGCCGCCGCCGCCGCTGCCGCG (hg19) ; chr4:g.41748007_41748034delinsGGCCGCCGCCGCCGCTGCCGCGGCCGCC (hg19) ; chr4:g.41745990T>G (hg38) ; chr4:g.41745990_41746011delinsGGCCGCCGCCGCCGCTGCCGCG (hg38) ; chr4:g.41745990_41746017delinsGGCCGCCGCCGCCGCTGCCGCGGCCGCC (hg38)
• PubMed: PMID:11919560 ; PMID:14709596 ; PMID:16691592 ; PMID:16763219 ; PMID:16830328 ; PMID:17637745 ; PMID:18079495 ; PMID:19881470 ; PMID:25085640

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745990T>G , CM000666.2:g.41745990T>G	GRCh38
NC_000004.11:g.41748007T>G , CM000666.1:g.41748007T>G	GRCh37
NC_000004.10:g.41442764T>G	NCBI36
NG_008243.1:g.7981A>C , LRG_513:g.7981A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.762A>C MANE Select	ENSP00000226382.2:p.Ala254=
ENST00000226382.3:c.762A>C	ENSP00000226382.2:p.Ala254=
NM_003924.3:c.762A>C , LRG_513t1:c.762A>C	NP_003915.2:p.Ala254=
NM_003924.4:c.762A>C MANE Select	NP_003915.2:p.Ala254=