Canonical Allele Identifier: CA2901431
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1760309
ClinVar RCV Id: RCV002400685
dbSNP Id: rs772835924
ExAC: 4:41747998 C / A
gnomAD v2: 4-41747998-C-A
gnomAD v4: 4-41745981-C-A
MyVariant Identifiers: chr4:g.41747998C>A (hg19) chr4:g.41747998_41748007delinsAGCTGCCGCT (hg19) chr4:g.41745981C>A (hg38) chr4:g.41745981_41745990delinsAGCTGCCGCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745981C>A , CM000666.2:g.41745981C>A GRCh38
NC_000004.11:g.41747998C>A , CM000666.1:g.41747998C>A GRCh37
NC_000004.10:g.41442755C>A NCBI36
NG_008243.1:g.7990G>T , LRG_513:g.7990G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.771G>T MANE Select ENSP00000226382.2:p.Ala257=
ENST00000226382.3:c.771G>T ENSP00000226382.2:p.Ala257=
NM_003924.3:c.771G>T , LRG_513t1:c.771G>T NP_003915.2:p.Ala257=
NM_003924.4:c.771G>T MANE Select NP_003915.2:p.Ala257=
Search 100 bp 5'
Search 100 bp 3'