Canonical Allele Identifier: CA439143093
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1572606
ClinVar RCV Id: RCV002207748 RCV002382319
dbSNP Id: rs1185437293
gnomAD v3: 4-41746020-C-G
gnomAD v4: 4-41746020-C-G
MyVariant Identifiers: chr4:g.41748037C>G (hg19) chr4:g.41746020C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746020C>G , CM000666.2:g.41746020C>G GRCh38
NC_000004.11:g.41748037C>G , CM000666.1:g.41748037C>G GRCh37
NC_000004.10:g.41442794C>G NCBI36
NG_008243.1:g.7951G>C , LRG_513:g.7951G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.732G>C MANE Select ENSP00000226382.2:p.Ala244=
ENST00000226382.3:c.732G>C ENSP00000226382.2:p.Ala244=
NM_003924.3:c.732G>C , LRG_513t1:c.732G>C NP_003915.2:p.Ala244=
NM_003924.4:c.732G>C MANE Select NP_003915.2:p.Ala244=
Search 100 bp 5'
Search 100 bp 3'