Canonical Allele Identifier: CA2901451

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 348810
• ClinVar RCV Id: RCV000293414 ; RCV000373748 ; RCV001420995 ; RCV002379240
• dbSNP Id: rs751829128
• ExAC: 4:41748040 T / C
• gnomAD v2: 4-41748040-T-C
• gnomAD v3: 4-41746023-T-C
• gnomAD v4: 4-41746023-T-C
• MyVariant Identifiers: chr4:g.41748040T>C (hg19) ; chr4:g.41746023T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746023T>C , CM000666.2:g.41746023T>C	GRCh38
NC_000004.11:g.41748040T>C , CM000666.1:g.41748040T>C	GRCh37
NC_000004.10:g.41442797T>C	NCBI36
NG_008243.1:g.7948A>G , LRG_513:g.7948A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.729A>G MANE Select	ENSP00000226382.2:p.Ala243=
ENST00000226382.3:c.729A>G	ENSP00000226382.2:p.Ala243=
NM_003924.3:c.729A>G , LRG_513t1:c.729A>G	NP_003915.2:p.Ala243=
NM_003924.4:c.729A>G MANE Select	NP_003915.2:p.Ala243=