Canonical Allele Identifier: CA356737214
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 956928
ClinVar RCV Id: RCV001229820 RCV004032680
dbSNP Id: rs1733881041
gnomAD v4: 4-41746009-G-A
MyVariant Identifiers: chr4:g.41748026G>A (hg19) chr4:g.41746009G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746009G>A , CM000666.2:g.41746009G>A GRCh38
NC_000004.11:g.41748026G>A , CM000666.1:g.41748026G>A GRCh37
NC_000004.10:g.41442783G>A NCBI36
NG_008243.1:g.7962C>T , LRG_513:g.7962C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.743C>T MANE Select ENSP00000226382.2:p.Ala248Val
ENST00000226382.3:c.743C>T ENSP00000226382.2:p.Ala248Val
NM_003924.3:c.743C>T , LRG_513t1:c.743C>T NP_003915.2:p.Ala248Val
NM_003924.4:c.743C>T MANE Select NP_003915.2:p.Ala248Val
Search 100 bp 5'
Search 100 bp 3'