Canonical Allele Identifier: CA356738444

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 1444821
• ClinVar RCV Id: RCV001992450 ; RCV002334953
• dbSNP Id: rs775931264
• gnomAD v4: 4-41746244-C-T
• MyVariant Identifiers: chr4:g.41748261C>T (hg19) ; chr4:g.41746244C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746244C>T , CM000666.2:g.41746244C>T	GRCh38
NC_000004.11:g.41748261C>T , CM000666.1:g.41748261C>T	GRCh37
NC_000004.10:g.41443018C>T	NCBI36
NG_008243.1:g.7727G>A , LRG_513:g.7727G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.508G>A MANE Select	ENSP00000226382.2:p.Gly170Ser
ENST00000226382.3:c.508G>A	ENSP00000226382.2:p.Gly170Ser
ENST00000510424.2:n.329G>A
NM_003924.3:c.508G>A , LRG_513t1:c.508G>A	NP_003915.2:p.Gly170Ser
NM_003924.4:c.508G>A MANE Select	NP_003915.2:p.Gly170Ser