Canonical Allele Identifier: CA2901451
Gene: PHOX2B HGNC NCBI

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)
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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=
Search 100 bp 5'
Search 100 bp 3'