Canonical Allele Identifier: CA356737003
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1450727
ClinVar RCV Id: RCV001992916 RCV002407172
dbSNP Id: rs2153112744
gnomAD v4: 4-41745904-A-T
MyVariant Identifiers: chr4:g.41747921A>T (hg19) chr4:g.41745904A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745904A>T , CM000666.2:g.41745904A>T GRCh38
NC_000004.11:g.41747921A>T , CM000666.1:g.41747921A>T GRCh37
NC_000004.10:g.41442678A>T NCBI36
NG_008243.1:g.8067T>A , LRG_513:g.8067T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.848T>A MANE Select ENSP00000226382.2:p.Ile283Asn
ENST00000226382.3:c.848T>A ENSP00000226382.2:p.Ile283Asn
NM_003924.3:c.848T>A , LRG_513t1:c.848T>A NP_003915.2:p.Ile283Asn
NM_003924.4:c.848T>A MANE Select NP_003915.2:p.Ile283Asn
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