Canonical Allele Identifier: CA439143097
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1758137
ClinVar RCV Id: RCV002382712
MyVariant Identifiers: chr4:g.41748040T>A (hg19)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.729A>T MANE Select ENSP00000226382.2:p.Ala243=
ENST00000226382.3:c.729A>T ENSP00000226382.2:p.Ala243=
NM_003924.3:c.729A>T , LRG_513t1:c.729A>T NP_003915.2:p.Ala243=
NM_003924.4:c.729A>T MANE Select NP_003915.2:p.Ala243=
Search 100 bp 5'
Search 100 bp 3'