Canonical Allele Identifier: CA356737027
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 822408
ClinVar RCV Id: RCV001017748
dbSNP Id: rs1577558782
gnomAD v4: 4-41745910-G-T
MyVariant Identifiers: chr4:g.41747927G>T (hg19) chr4:g.41745910G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745910G>T , CM000666.2:g.41745910G>T GRCh38
NC_000004.11:g.41747927G>T , CM000666.1:g.41747927G>T GRCh37
NC_000004.10:g.41442684G>T NCBI36
NG_008243.1:g.8061C>A , LRG_513:g.8061C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.842C>A MANE Select ENSP00000226382.2:p.Thr281Asn
ENST00000226382.3:c.842C>A ENSP00000226382.2:p.Thr281Asn
NM_003924.3:c.842C>A , LRG_513t1:c.842C>A NP_003915.2:p.Thr281Asn
NM_003924.4:c.842C>A MANE Select NP_003915.2:p.Thr281Asn
Search 100 bp 5'
Search 100 bp 3'