Canonical Allele Identifier: CA439143058

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 1674220
• ClinVar RCV Id: RCV002204314 ; RCV002391367
• dbSNP Id: rs1443950997
• gnomAD v2: 4-41748022-T-C
• gnomAD v4: 4-41746005-T-C
• COSMIC: COSM4655339
• MyVariant Identifiers: chr4:g.41748022T>C (hg19) ; chr4:g.41748022_41748037delinsCGCCGCGGCCGCCGCC (hg19) ; chr4:g.41746005_41746020delinsCGCCGCGGCCGCCGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746005T>C , CM000666.2:g.41746005T>C	GRCh38
NC_000004.11:g.41748022T>C , CM000666.1:g.41748022T>C	GRCh37
NC_000004.10:g.41442779T>C	NCBI36
NG_008243.1:g.7966A>G , LRG_513:g.7966A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.747A>G MANE Select	ENSP00000226382.2:p.Ala249=
ENST00000226382.3:c.747A>G	ENSP00000226382.2:p.Ala249=
NM_003924.3:c.747A>G , LRG_513t1:c.747A>G	NP_003915.2:p.Ala249=
NM_003924.4:c.747A>G MANE Select	NP_003915.2:p.Ala249=