Canonical Allele Identifier: CA274286

Gene: CFTR

Linked Data

• ClinVar Variation Id: 189027
• ClinVar RCV Id: RCV000169416 ; RCV000593113 ; RCV002257473 ; RCV004535148
• dbSNP Id: rs185028612
• gnomAD v2: 7-117119688-A-G
• gnomAD v3: 7-117479634-A-G
• gnomAD v4: 7-117479634-A-G
• MyVariant Identifiers: chr7:g.117119688A>G (hg19) ; chr7:g.117479634A>G (hg38)
• PubMed: PMID:11788090 ; PMID:23470247 ; PMID:23810505

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479634A>G , CM000669.2:g.117479634A>G	GRCh38
NC_000007.13:g.117119688A>G , CM000669.1:g.117119688A>G	GRCh37
NC_000007.12:g.116906924A>G	NCBI36
NG_016465.4:g.18851A>G , LRG_663:g.18851A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-251A>G	ENSP00000417012.1:n.-251A>G
ENST00000673785.1:c.-406+13803A>G	ENSP00000501235.1:n.-406+13803A>G
ENST00000446805.1:c.-251A>G	ENSP00000417012.1:n.-251A>G
ENST00000546407.1:n.166+3826A>G
XM_011515751.1:c.143+289A>G	XP_011514053.1:n.143+289A>G
XM_011515752.1:c.143+289A>G	XP_011514054.1:n.143+289A>G
XM_011515753.1:c.-251A>G	XP_011514055.1:n.-251A>G
XM_011515754.1:c.-579A>G	XP_011514056.1:n.-579A>G