Canonical Allele Identifier: CA439143083
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2741293
ClinVar RCV Id: RCV003516702
dbSNP Id: rs1171236347
gnomAD v4: 4-41746017-C-G
MyVariant Identifiers: chr4:g.41748034C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746017C>G , CM000666.2:g.41746017C>G GRCh38
NC_000004.11:g.41748034C>G , CM000666.1:g.41748034C>G GRCh37
NC_000004.10:g.41442791C>G NCBI36
NG_008243.1:g.7954G>C , LRG_513:g.7954G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.735G>C MANE Select ENSP00000226382.2:p.Ala245=
ENST00000226382.3:c.735G>C ENSP00000226382.2:p.Ala245=
NM_003924.3:c.735G>C , LRG_513t1:c.735G>C NP_003915.2:p.Ala245=
NM_003924.4:c.735G>C MANE Select NP_003915.2:p.Ala245=
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Search 100 bp 3'