Canonical Allele Identifier: CA356738302
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 639964
ClinVar RCV Id: RCV002233841
dbSNP Id: rs1577559313
MyVariant Identifiers: chr4:g.41748237A>T (hg19) chr4:g.41746220A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746220A>T , CM000666.2:g.41746220A>T GRCh38
NC_000004.11:g.41748237A>T , CM000666.1:g.41748237A>T GRCh37
NC_000004.10:g.41442994A>T NCBI36
NG_008243.1:g.7751T>A , LRG_513:g.7751T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.532T>A MANE Select ENSP00000226382.2:p.Ser178Thr
ENST00000226382.3:c.532T>A ENSP00000226382.2:p.Ser178Thr
ENST00000510424.2:n.353T>A
NM_003924.3:c.532T>A , LRG_513t1:c.532T>A NP_003915.2:p.Ser178Thr
NM_003924.4:c.532T>A MANE Select NP_003915.2:p.Ser178Thr
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Search 100 bp 3'