Canonical Allele Identifier: CA356737314

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 1383560
• ClinVar RCV Id: RCV001924622 ; RCV002361159
• dbSNP Id: rs1256766962
• gnomAD v4: 4-41746043-C-T
• MyVariant Identifiers: chr4:g.41748060C>T (hg19) ; chr4:g.41746043C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746043C>T , CM000666.2:g.41746043C>T	GRCh38
NC_000004.11:g.41748060C>T , CM000666.1:g.41748060C>T	GRCh37
NC_000004.10:g.41442817C>T	NCBI36
NG_008243.1:g.7928G>A , LRG_513:g.7928G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.709G>A MANE Select	ENSP00000226382.2:p.Gly237Ser
ENST00000226382.3:c.709G>A	ENSP00000226382.2:p.Gly237Ser
ENST00000510424.2:n.530G>A
NM_003924.3:c.709G>A , LRG_513t1:c.709G>A	NP_003915.2:p.Gly237Ser
NM_003924.4:c.709G>A MANE Select	NP_003915.2:p.Gly237Ser