Canonical Allele Identifier: CA356737133
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 467747
ClinVar RCV Id: RCV000537295 RCV002420457
dbSNP Id: rs1320695099
gnomAD v3: 4-41745962-C-A
gnomAD v4: 4-41745962-C-A
MyVariant Identifiers: chr4:g.41747979C>A (hg19) chr4:g.41745962C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745962C>A , CM000666.2:g.41745962C>A GRCh38
NC_000004.11:g.41747979C>A , CM000666.1:g.41747979C>A GRCh37
NC_000004.10:g.41442736C>A NCBI36
NG_008243.1:g.8009G>T , LRG_513:g.8009G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.790G>T MANE Select ENSP00000226382.2:p.Ala264Ser
ENST00000226382.3:c.790G>T ENSP00000226382.2:p.Ala264Ser
NM_003924.3:c.790G>T , LRG_513t1:c.790G>T NP_003915.2:p.Ala264Ser
NM_003924.4:c.790G>T MANE Select NP_003915.2:p.Ala264Ser
Search 100 bp 5'
Search 100 bp 3'