Canonical Allele Identifier: CA356737277
Gene: PHOX2B HGNC NCBI

Linked Data

gnomAD v4: 4-41746033-C-A
MyVariant Identifiers: chr4:g.41748050C>A (hg19) chr4:g.41746033C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746033C>A , CM000666.2:g.41746033C>A GRCh38
NC_000004.11:g.41748050C>A , CM000666.1:g.41748050C>A GRCh37
NC_000004.10:g.41442807C>A NCBI36
NG_008243.1:g.7938G>T , LRG_513:g.7938G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.719G>T MANE Select ENSP00000226382.2:p.Gly240Val
ENST00000226382.3:c.719G>T ENSP00000226382.2:p.Gly240Val
ENST00000510424.2:n.540G>T
NM_003924.3:c.719G>T , LRG_513t1:c.719G>T NP_003915.2:p.Gly240Val
NM_003924.4:c.719G>T MANE Select NP_003915.2:p.Gly240Val
Search 100 bp 5'
Search 100 bp 3'