Canonical Allele Identifier: CA10621047

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 348801
• ClinVar RCV Id: RCV000265236 ; RCV000383097 ; RCV003437105
• dbSNP Id: rs114290493
• gnomAD v2: 4-41747663-C-T
• gnomAD v3: 4-41745646-C-T
• gnomAD v4: 4-41745646-C-T
• MyVariant Identifiers: chr4:g.41747663C>T (hg19) ; chr4:g.41745646C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745646C>T , CM000666.2:g.41745646C>T	GRCh38
NC_000004.11:g.41747663C>T , CM000666.1:g.41747663C>T	GRCh37
NC_000004.10:g.41442420C>T	NCBI36
NG_008243.1:g.8325G>A , LRG_513:g.8325G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.*161G>A MANE Select	ENSP00000226382.2:n.*161G>A
ENST00000226382.3:c.*161G>A	ENSP00000226382.2:n.*161G>A
NM_003924.3:c.*161G>A , LRG_513t1:c.*161G>A	NP_003915.2:n.*161G>A
NM_003924.4:c.*161G>A MANE Select	NP_003915.2:n.*161G>A