Canonical Allele Identifier: CA4450927

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1960487
• ClinVar RCV Id: RCV002715507
• dbSNP Id: rs749062177
• ExAC: 7:117182174 T / TA
• gnomAD v2: 7-117182174-T-TA
• gnomAD v3: 7-117542120-T-TA
• gnomAD v4: 7-117542120-T-TA
• MyVariant Identifiers: chr7:g.117182174_117182175insA (hg19) ; chr7:g.117542120_117542121insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117542126dup , CM000669.2:g.117542126dup	GRCh38
NC_000007.13:g.117182180dup , CM000669.1:g.117182180dup	GRCh37
NC_000007.12:g.116969416dup	NCBI36
NG_016465.4:g.81343dup , LRG_663:g.81343dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1209+18dup	ENSP00000497673.2:n.1209+18dup
ENST00000647978.2:c.*1106+18dup	ENSP00000497658.1:n.*1106+18dup
ENST00000649781.2:c.1209+18dup	ENSP00000497203.1:n.1209+18dup
ENST00000685018.2:c.1209+18dup	ENSP00000510194.2:n.1209+18dup
ENST00000687278.2:c.1209+18dup	ENSP00000509593.2:n.1209+18dup
ENST00000699585.1:c.1209+18dup	ENSP00000514456.1:n.1209+18dup
ENST00000699596.1:c.1209+18dup	ENSP00000514465.1:n.1209+18dup
ENST00000699597.1:c.1209+18dup	ENSP00000514466.1:n.1209+18dup
ENST00000699598.1:c.1209+18dup	ENSP00000514467.1:n.1209+18dup
ENST00000699599.1:c.1209+18dup	ENSP00000514468.1:n.1209+18dup
ENST00000699600.1:c.1209+18dup	ENSP00000514469.1:n.1209+18dup
ENST00000699601.1:c.1209+18dup	ENSP00000514470.1:n.1209+18dup
ENST00000699602.1:c.1209+18dup	ENSP00000514471.1:n.1209+18dup
ENST00000699604.1:c.*1033+18dup	ENSP00000514472.1:n.*1033+18dup
ENST00000699605.1:c.966+18dup	ENSP00000514473.1:n.966+18dup
ENST00000003084.11:c.1209+18dup MANE Select	ENSP00000003084.6:n.1209+18dup
ENST00000647978.1:c.*1106+18dup	ENSP00000497658.1:n.*1106+18dup
ENST00000648260.1:c.1209+18dup	ENSP00000497957.1:n.1209+18dup
ENST00000649406.1:c.1209+18dup	ENSP00000497965.1:n.1209+18dup
ENST00000649781.1:c.1209+18dup	ENSP00000497203.1:n.1209+18dup
ENST00000673785.1:c.966+18dup	ENSP00000501235.1:n.966+18dup
ENST00000003084.10:c.1209+18dup	ENSP00000003084.6:n.1209+18dup
ENST00000426809.5:c.1119+18dup	ENSP00000389119.1:n.1119+18dup
NM_000492.3:c.1209+18dup , LRG_663t1:c.1209+18dup	NP_000483.3:n.1209+18dup
XM_011515751.1:c.1299+18dup	XP_011514053.1:n.1299+18dup
XM_011515752.1:c.1299+18dup	XP_011514054.1:n.1299+18dup
XM_011515753.1:c.966+18dup	XP_011514055.1:n.966+18dup
XM_011515754.1:c.966+18dup	XP_011514056.1:n.966+18dup
NM_000492.4:c.1209+18dup MANE Select	NP_000483.3:n.1209+18dup