Canonical Allele Identifier: CA2901444
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2563112
ClinVar RCV Id: RCV003301273 RCV003633700
dbSNP Id: rs776800047
ExAC: 4:41748016 C / T
gnomAD v2: 4-41748016-C-T
gnomAD v4: 4-41745999-C-T
MyVariant Identifiers: chr4:g.41748016C>T (hg19) chr4:g.41745999C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745999C>T , CM000666.2:g.41745999C>T GRCh38
NC_000004.11:g.41748016C>T , CM000666.1:g.41748016C>T GRCh37
NC_000004.10:g.41442773C>T NCBI36
NG_008243.1:g.7972G>A , LRG_513:g.7972G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.753G>A MANE Select ENSP00000226382.2:p.Ala251=
ENST00000226382.3:c.753G>A ENSP00000226382.2:p.Ala251=
NM_003924.3:c.753G>A , LRG_513t1:c.753G>A NP_003915.2:p.Ala251=
NM_003924.4:c.753G>A MANE Select NP_003915.2:p.Ala251=
Search 100 bp 5'
Search 100 bp 3'