Canonical Allele Identifier: CA356738655
Gene: PHOX2B HGNC NCBI

Linked Data

dbSNP Id: rs1162776926
MyVariant Identifiers: chr4:g.41748294C>G (hg19) chr4:g.41746277C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746277C>G , CM000666.2:g.41746277C>G GRCh38
NC_000004.11:g.41748294C>G , CM000666.1:g.41748294C>G GRCh37
NC_000004.10:g.41443051C>G NCBI36
NG_008243.1:g.7694G>C , LRG_513:g.7694G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.475G>C MANE Select ENSP00000226382.2:p.Ala159Pro
ENST00000226382.3:c.475G>C ENSP00000226382.2:p.Ala159Pro
ENST00000510424.2:n.296G>C
NM_003924.3:c.475G>C , LRG_513t1:c.475G>C NP_003915.2:p.Ala159Pro
NM_003924.4:c.475G>C MANE Select NP_003915.2:p.Ala159Pro
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