Canonical Allele Identifier: CA356738697
Gene: PHOX2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.41748301C>G (hg19) chr4:g.41746284C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746284C>G , CM000666.2:g.41746284C>G GRCh38
NC_000004.11:g.41748301C>G , CM000666.1:g.41748301C>G GRCh37
NC_000004.10:g.41443058C>G NCBI36
NG_008243.1:g.7687G>C , LRG_513:g.7687G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.468G>C MANE Select ENSP00000226382.2:p.Gln156His
ENST00000226382.3:c.468G>C ENSP00000226382.2:p.Gln156His
ENST00000510424.2:n.289G>C
NM_003924.3:c.468G>C , LRG_513t1:c.468G>C NP_003915.2:p.Gln156His
NM_003924.4:c.468G>C MANE Select NP_003915.2:p.Gln156His
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