Canonical Allele Identifier: CA356738790
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1741264
ClinVar RCV Id: RCV002340041 RCV003775913
MyVariant Identifiers: chr4:g.41748317G>A (hg19) chr4:g.41746300G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746300G>A , CM000666.2:g.41746300G>A GRCh38
NC_000004.11:g.41748317G>A , CM000666.1:g.41748317G>A GRCh37
NC_000004.10:g.41443074G>A NCBI36
NG_008243.1:g.7671C>T , LRG_513:g.7671C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.452C>T MANE Select ENSP00000226382.2:p.Ala151Val
ENST00000226382.3:c.452C>T ENSP00000226382.2:p.Ala151Val
ENST00000510424.2:n.273C>T
NM_003924.3:c.452C>T , LRG_513t1:c.452C>T NP_003915.2:p.Ala151Val
NM_003924.4:c.452C>T MANE Select NP_003915.2:p.Ala151Val
Search 100 bp 5'
Search 100 bp 3'