Canonical Allele Identifier: CA2901382

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 348808
• ClinVar RCV Id: RCV000271948 ; RCV000366615
• dbSNP Id: rs776498322
• ExAC: 4:41747806 C / T
• gnomAD v2: 4-41747806-C-T
• gnomAD v3: 4-41745789-C-T
• gnomAD v4: 4-41745789-C-T
• MyVariant Identifiers: chr4:g.41747806C>T (hg19) ; chr4:g.41745789C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745789C>T , CM000666.2:g.41745789C>T	GRCh38
NC_000004.11:g.41747806C>T , CM000666.1:g.41747806C>T	GRCh37
NC_000004.10:g.41442563C>T	NCBI36
NG_008243.1:g.8182G>A , LRG_513:g.8182G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.*18G>A MANE Select	ENSP00000226382.2:n.*18G>A
ENST00000226382.3:c.*18G>A	ENSP00000226382.2:n.*18G>A
NM_003924.3:c.*18G>A , LRG_513t1:c.*18G>A	NP_003915.2:n.*18G>A
NM_003924.4:c.*18G>A MANE Select	NP_003915.2:n.*18G>A