Canonical Allele Identifier: CA2901485
Gene: PHOX2B HGNC NCBI

Linked Data

dbSNP Id: rs763569681
ExAC: 4:41748266 T / C
gnomAD v2: 4-41748266-T-C
gnomAD v3: 4-41746249-T-C
gnomAD v4: 4-41746249-T-C
MyVariant Identifiers: chr4:g.41748266T>C (hg19) chr4:g.41746249T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746249T>C , CM000666.2:g.41746249T>C GRCh38
NC_000004.11:g.41748266T>C , CM000666.1:g.41748266T>C GRCh37
NC_000004.10:g.41443023T>C NCBI36
NG_008243.1:g.7722A>G , LRG_513:g.7722A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.503A>G MANE Select ENSP00000226382.2:p.Lys168Arg
ENST00000226382.3:c.503A>G ENSP00000226382.2:p.Lys168Arg
ENST00000510424.2:n.324A>G
NM_003924.3:c.503A>G , LRG_513t1:c.503A>G NP_003915.2:p.Lys168Arg
NM_003924.4:c.503A>G MANE Select NP_003915.2:p.Lys168Arg
Search 100 bp 5'
Search 100 bp 3'