Canonical Allele Identifier: CA439143062
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1758972
ClinVar RCV Id: RCV002385113
gnomAD v4: 4-41746008-C-A
MyVariant Identifiers: chr4:g.41748025C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746008C>A , CM000666.2:g.41746008C>A GRCh38
NC_000004.11:g.41748025C>A , CM000666.1:g.41748025C>A GRCh37
NC_000004.10:g.41442782C>A NCBI36
NG_008243.1:g.7963G>T , LRG_513:g.7963G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.744G>T MANE Select ENSP00000226382.2:p.Ala248=
ENST00000226382.3:c.744G>T ENSP00000226382.2:p.Ala248=
NM_003924.3:c.744G>T , LRG_513t1:c.744G>T NP_003915.2:p.Ala248=
NM_003924.4:c.744G>T MANE Select NP_003915.2:p.Ala248=
Search 100 bp 5'
Search 100 bp 3'