Canonical Allele Identifier: CA356737010
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2132443
ClinVar RCV Id: RCV003036739
MyVariant Identifiers: chr4:g.41747922T>G (hg19) chr4:g.41745905T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745905T>G , CM000666.2:g.41745905T>G GRCh38
NC_000004.11:g.41747922T>G , CM000666.1:g.41747922T>G GRCh37
NC_000004.10:g.41442679T>G NCBI36
NG_008243.1:g.8066A>C , LRG_513:g.8066A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.847A>C MANE Select ENSP00000226382.2:p.Ile283Leu
ENST00000226382.3:c.847A>C ENSP00000226382.2:p.Ile283Leu
NM_003924.3:c.847A>C , LRG_513t1:c.847A>C NP_003915.2:p.Ile283Leu
NM_003924.4:c.847A>C MANE Select NP_003915.2:p.Ile283Leu
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