Canonical Allele Identifier: CA356737471
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1051244
ClinVar RCV Id: RCV001359259
dbSNP Id: rs746684161
MyVariant Identifiers: chr4:g.41748108C>G (hg19) chr4:g.41746091C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746091C>G , CM000666.2:g.41746091C>G GRCh38
NC_000004.11:g.41748108C>G , CM000666.1:g.41748108C>G GRCh37
NC_000004.10:g.41442865C>G NCBI36
NG_008243.1:g.7880G>C , LRG_513:g.7880G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.661G>C MANE Select ENSP00000226382.2:p.Ala221Pro
ENST00000226382.3:c.661G>C ENSP00000226382.2:p.Ala221Pro
ENST00000510424.2:n.482G>C
NM_003924.3:c.661G>C , LRG_513t1:c.661G>C NP_003915.2:p.Ala221Pro
NM_003924.4:c.661G>C MANE Select NP_003915.2:p.Ala221Pro
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