Canonical Allele Identifier: CA2901382
Gene: PHOX2B HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.41745789C>T
GRCh37 chr4:g.41747806C>T
gnomAD v2:
4:41747806 C / T
gnomAD v3:
4:41745789 C / T
gnomAD v4:
chr4-41745789-C-T
Joint Max Group AF 0.00016705 (NFE)
Genomes Max Group AF 0.0000888 (AMR)
Exomes Max Group AF 0.00016928 (NFE)
ClinVar RCV:
RCV000271948
RCV000366615
ClinVar Variation:
348808
dbSNP:
776498322
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745789C>T , CM000666.2:g.41745789C>T GRCh38
NC_000004.11:g.41747806C>T , CM000666.1:g.41747806C>T GRCh37
NC_000004.10:g.41442563C>T NCBI36
NG_008243.1:g.8182G>A , LRG_513:g.8182G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.*18G>A MANE Select ENSP00000226382.2:n.*18G>A
ENST00000226382.3:c.*18G>A ENSP00000226382.2:n.*18G>A
NM_003924.3:c.*18G>A , LRG_513t1:c.*18G>A NP_003915.2:n.*18G>A
NM_003924.4:c.*18G>A MANE Select NP_003915.2:n.*18G>A
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