Canonical Allele Identifier: CA439142972
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 827306
ClinVar RCV Id: RCV001026903 RCV001419335
dbSNP Id: rs749254001
gnomAD v4: 4-41745965-G-A
MyVariant Identifiers: chr4:g.41747982G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745965G>A , CM000666.2:g.41745965G>A GRCh38
NC_000004.11:g.41747982G>A , CM000666.1:g.41747982G>A GRCh37
NC_000004.10:g.41442739G>A NCBI36
NG_008243.1:g.8006C>T , LRG_513:g.8006C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.787C>T MANE Select ENSP00000226382.2:p.Leu263=
ENST00000226382.3:c.787C>T ENSP00000226382.2:p.Leu263=
NM_003924.3:c.787C>T , LRG_513t1:c.787C>T NP_003915.2:p.Leu263=
NM_003924.4:c.787C>T MANE Select NP_003915.2:p.Leu263=
Search 100 bp 5'
Search 100 bp 3'