Canonical Allele Identifier: CA356738384
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 937393
ClinVar RCV Id: RCV001206389 RCV002256696
dbSNP Id: rs1733895906
gnomAD v4: 4-41746232-T-C
MyVariant Identifiers: chr4:g.41748249T>C (hg19) chr4:g.41746232T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746232T>C , CM000666.2:g.41746232T>C GRCh38
NC_000004.11:g.41748249T>C , CM000666.1:g.41748249T>C GRCh37
NC_000004.10:g.41443006T>C NCBI36
NG_008243.1:g.7739A>G , LRG_513:g.7739A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.520A>G MANE Select ENSP00000226382.2:p.Lys174Glu
ENST00000226382.3:c.520A>G ENSP00000226382.2:p.Lys174Glu
ENST00000510424.2:n.341A>G
NM_003924.3:c.520A>G , LRG_513t1:c.520A>G NP_003915.2:p.Lys174Glu
NM_003924.4:c.520A>G MANE Select NP_003915.2:p.Lys174Glu
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Search 100 bp 3'