Canonical Allele Identifier: CA161481
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 135035
ClinVar RCV Id: RCV000459859 RCV000121808 RCV001785471 RCV002408628 RCV003474730
dbSNP Id: rs587778607
gnomAD v2: 4-41747943-C-T
gnomAD v3: 4-41745926-C-T
gnomAD v4: 4-41745926-C-T
MyVariant Identifiers: chr4:g.41747943C>T (hg19) chr4:g.41745926C>T (hg38)
PubMed: PMID:24728327
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745926C>T , CM000666.2:g.41745926C>T GRCh38
NC_000004.11:g.41747943C>T , CM000666.1:g.41747943C>T GRCh37
NC_000004.10:g.41442700C>T NCBI36
NG_008243.1:g.8045G>A , LRG_513:g.8045G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.826G>A MANE Select ENSP00000226382.2:p.Gly276Ser
ENST00000226382.3:c.826G>A ENSP00000226382.2:p.Gly276Ser
NM_003924.3:c.826G>A , LRG_513t1:c.826G>A NP_003915.2:p.Gly276Ser
NM_003924.4:c.826G>A MANE Select NP_003915.2:p.Gly276Ser
Search 100 bp 5'
Search 100 bp 3'