Canonical Allele Identifier: CA325803

Gene: CFTR

Linked Data

• ClinVar Variation Id: 51029
• ClinVar RCV Id: RCV000043698 ; RCV000507401 ; RCV001281708
• dbSNP Id: rs181008242
• gnomAD v2: 7-117119337-T-G
• gnomAD v3: 7-117479283-T-G
• gnomAD v4: 7-117479283-T-G
• MyVariant Identifiers: chr7:g.117119337T>G (hg19) ; chr7:g.117479283T>G (hg38)
• PubMed: PMID:7540587 ; PMID:18703788 ; PMID:22504961 ; PMID:23470247 ; PMID:25797027 ; PMID:26847993

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479283T>G , CM000669.2:g.117479283T>G	GRCh38
NC_000007.13:g.117119337T>G , CM000669.1:g.117119337T>G	GRCh37
NC_000007.12:g.116906573T>G	NCBI36
NG_016465.4:g.18500T>G , LRG_663:g.18500T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000446805.2:c.-486T>G	ENSP00000417012.1:n.-486T>G
ENST00000673785.1:c.-406+13452T>G	ENSP00000501235.1:n.-406+13452T>G
ENST00000546407.1:n.166+3475T>G
XM_011515751.1:c.81T>G	XP_011514053.1:p.Thr27=
XM_011515752.1:c.81T>G	XP_011514054.1:p.Thr27=
XM_011515754.1:c.-814T>G	XP_011514056.1:n.-814T>G