Canonical Allele Identifier: CA95828475
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 901291
ClinVar RCV Id: RCV001147071 RCV001147072 RCV001430876 RCV001811674 RCV002379658
dbSNP Id: rs764470906
gnomAD v2: 4-41748028-G-C
gnomAD v4: 4-41746011-G-C
MyVariant Identifiers: chr4:g.41748028G>C (hg19) chr4:g.41746011G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746011G>C , CM000666.2:g.41746011G>C GRCh38
NC_000004.11:g.41748028G>C , CM000666.1:g.41748028G>C GRCh37
NC_000004.10:g.41442785G>C NCBI36
NG_008243.1:g.7960C>G , LRG_513:g.7960C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.741C>G MANE Select ENSP00000226382.2:p.Ala247=
ENST00000226382.3:c.741C>G ENSP00000226382.2:p.Ala247=
NM_003924.3:c.741C>G , LRG_513t1:c.741C>G NP_003915.2:p.Ala247=
NM_003924.4:c.741C>G MANE Select NP_003915.2:p.Ala247=
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Search 100 bp 3'