Canonical Allele Identifier: CA356738818
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 599417
ClinVar RCV Id: RCV000736042
dbSNP Id: rs1560465785
MyVariant Identifiers: chr4:g.41748324G>C (hg19) chr4:g.41746307G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746307G>C , CM000666.2:g.41746307G>C GRCh38
NC_000004.11:g.41748324G>C , CM000666.1:g.41748324G>C GRCh37
NC_000004.10:g.41443081G>C NCBI36
NG_008243.1:g.7664C>G , LRG_513:g.7664C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.445C>G MANE Select ENSP00000226382.2:p.Arg149Gly
ENST00000226382.3:c.445C>G ENSP00000226382.2:p.Arg149Gly
ENST00000510424.2:n.266C>G
NM_003924.3:c.445C>G , LRG_513t1:c.445C>G NP_003915.2:p.Arg149Gly
NM_003924.4:c.445C>G MANE Select NP_003915.2:p.Arg149Gly
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