Canonical Allele Identifier: CA356737165
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1346897
ClinVar RCV Id: RCV002041532 RCV002397770
dbSNP Id: rs2153112760
gnomAD v4: 4-41745982-G-A
MyVariant Identifiers: chr4:g.41747999G>A (hg19) chr4:g.41745982G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745982G>A , CM000666.2:g.41745982G>A GRCh38
NC_000004.11:g.41747999G>A , CM000666.1:g.41747999G>A GRCh37
NC_000004.10:g.41442756G>A NCBI36
NG_008243.1:g.7989C>T , LRG_513:g.7989C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.770C>T MANE Select ENSP00000226382.2:p.Ala257Val
ENST00000226382.3:c.770C>T ENSP00000226382.2:p.Ala257Val
NM_003924.3:c.770C>T , LRG_513t1:c.770C>T NP_003915.2:p.Ala257Val
NM_003924.4:c.770C>T MANE Select NP_003915.2:p.Ala257Val
Search 100 bp 5'
Search 100 bp 3'