Canonical Allele Identifier: CA95828397
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 664519
ClinVar RCV Id: RCV000822626 RCV002415941
dbSNP Id: rs1010753155
gnomAD v2: 4-41747976-C-T
gnomAD v3: 4-41745959-C-T
gnomAD v4: 4-41745959-C-T
MyVariant Identifiers: chr4:g.41747976C>T (hg19) chr4:g.41745959C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745959C>T , CM000666.2:g.41745959C>T GRCh38
NC_000004.11:g.41747976C>T , CM000666.1:g.41747976C>T GRCh37
NC_000004.10:g.41442733C>T NCBI36
NG_008243.1:g.8012G>A , LRG_513:g.8012G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.793G>A MANE Select ENSP00000226382.2:p.Ala265Thr
ENST00000226382.3:c.793G>A ENSP00000226382.2:p.Ala265Thr
NM_003924.3:c.793G>A , LRG_513t1:c.793G>A NP_003915.2:p.Ala265Thr
NM_003924.4:c.793G>A MANE Select NP_003915.2:p.Ala265Thr
Search 100 bp 5'
Search 100 bp 3'