Canonical Allele Identifier: CA2901426
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1760487
ClinVar RCV Id: RCV002409706 RCV003099738
dbSNP Id: rs773873721
ExAC: 4:41747994 C / T
gnomAD v2: 4-41747994-C-T
gnomAD v4: 4-41745977-C-T
MyVariant Identifiers: chr4:g.41747994C>T (hg19) chr4:g.41745977C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745977C>T , CM000666.2:g.41745977C>T GRCh38
NC_000004.11:g.41747994C>T , CM000666.1:g.41747994C>T GRCh37
NC_000004.10:g.41442751C>T NCBI36
NG_008243.1:g.7994G>A , LRG_513:g.7994G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.775G>A MANE Select ENSP00000226382.2:p.Ala259Thr
ENST00000226382.3:c.775G>A ENSP00000226382.2:p.Ala259Thr
NM_003924.3:c.775G>A , LRG_513t1:c.775G>A NP_003915.2:p.Ala259Thr
NM_003924.4:c.775G>A MANE Select NP_003915.2:p.Ala259Thr
Search 100 bp 5'
Search 100 bp 3'