Canonical Allele Identifier: CA356738767
Gene: PHOX2B HGNC NCBI

Linked Data

dbSNP Id: rs1454522423
gnomAD v2: 4-41748312-A-G
MyVariant Identifiers: chr4:g.41748312A>G (hg19) chr4:g.41746295A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746295A>G , CM000666.2:g.41746295A>G GRCh38
NC_000004.11:g.41748312A>G , CM000666.1:g.41748312A>G GRCh37
NC_000004.10:g.41443069A>G NCBI36
NG_008243.1:g.7676T>C , LRG_513:g.7676T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.457T>C MANE Select ENSP00000226382.2:p.Phe153Leu
ENST00000226382.3:c.457T>C ENSP00000226382.2:p.Phe153Leu
ENST00000510424.2:n.278T>C
NM_003924.3:c.457T>C , LRG_513t1:c.457T>C NP_003915.2:p.Phe153Leu
NM_003924.4:c.457T>C MANE Select NP_003915.2:p.Phe153Leu
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