Canonical Allele Identifier: CA164948733

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2681864
• ClinVar RCV Id: RCV003477156 ; RCV004364814
• dbSNP Id: rs563343413
• gnomAD v3: 7-117479979-C-T
• gnomAD v4: 7-117479979-C-T
• MyVariant Identifiers: chr7:g.117120033C>T (hg19) ; chr7:g.117479979C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479979C>T , CM000669.2:g.117479979C>T	GRCh38
NC_000007.13:g.117120033C>T , CM000669.1:g.117120033C>T	GRCh37
NC_000007.12:g.116907269C>T	NCBI36
NG_016465.4:g.19196C>T , LRG_663:g.19196C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-191+285C>T	ENSP00000417012.1:n.-191+285C>T
ENST00000673785.1:c.-406+14148C>T	ENSP00000501235.1:n.-406+14148C>T
ENST00000003084.10:c.-116C>T	ENSP00000003084.6:n.-116C>T
ENST00000446805.1:c.-191+285C>T	ENSP00000417012.1:n.-191+285C>T
ENST00000546407.1:n.166+4171C>T
NM_000492.3:c.-116C>T , LRG_663t1:c.-116C>T	NP_000483.3:n.-116C>T
XM_011515751.1:c.143+634C>T	XP_011514053.1:n.143+634C>T
XM_011515752.1:c.143+634C>T	XP_011514054.1:n.143+634C>T
XM_011515753.1:c.-191+285C>T	XP_011514055.1:n.-191+285C>T
XM_011515754.1:c.-518-169C>T	XP_011514056.1:n.-518-169C>T