Canonical Allele Identifier: CA2901454
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 467736
ClinVar RCV Id: RCV000531357 RCV002367877
dbSNP Id: rs779913205
ExAC: 4:41748089 G / C
gnomAD v2: 4-41748089-G-C
gnomAD v3: 4-41746072-G-C
gnomAD v4: 4-41746072-G-C
MyVariant Identifiers: chr4:g.41748089G>C (hg19) chr4:g.41746072G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746072G>C , CM000666.2:g.41746072G>C GRCh38
NC_000004.11:g.41748089G>C , CM000666.1:g.41748089G>C GRCh37
NC_000004.10:g.41442846G>C NCBI36
NG_008243.1:g.7899C>G , LRG_513:g.7899C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.680C>G MANE Select ENSP00000226382.2:p.Ala227Gly
ENST00000226382.3:c.680C>G ENSP00000226382.2:p.Ala227Gly
ENST00000510424.2:n.501C>G
NM_003924.3:c.680C>G , LRG_513t1:c.680C>G NP_003915.2:p.Ala227Gly
NM_003924.4:c.680C>G MANE Select NP_003915.2:p.Ala227Gly
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Search 100 bp 3'