Canonical Allele Identifier: CA356737074
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2051346
ClinVar RCV Id: RCV002927182
MyVariant Identifiers: chr4:g.41747949C>G (hg19) chr4:g.41745932C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745932C>G , CM000666.2:g.41745932C>G GRCh38
NC_000004.11:g.41747949C>G , CM000666.1:g.41747949C>G GRCh37
NC_000004.10:g.41442706C>G NCBI36
NG_008243.1:g.8039G>C , LRG_513:g.8039G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.820G>C MANE Select ENSP00000226382.2:p.Ala274Pro
ENST00000226382.3:c.820G>C ENSP00000226382.2:p.Ala274Pro
NM_003924.3:c.820G>C , LRG_513t1:c.820G>C NP_003915.2:p.Ala274Pro
NM_003924.4:c.820G>C MANE Select NP_003915.2:p.Ala274Pro
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