Canonical Allele Identifier: CA4451344

Gene: CFTR

Linked Data

• dbSNP Id: rs776522386
• ExAC: 7:117246802 A / C
• gnomAD v2: 7-117246802-A-C
• MyVariant Identifiers: chr7:g.117246802A>C (hg19) ; chr7:g.117606748A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606748A>C , CM000669.2:g.117606748A>C	GRCh38
NC_000007.13:g.117246802A>C , CM000669.1:g.117246802A>C	GRCh37
NC_000007.12:g.117034038A>C	NCBI36
NG_016465.4:g.145965A>C , LRG_663:g.145965A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2983A>C	ENSP00000497673.2:p.Ile995Leu
ENST00000647978.2:c.*2697A>C	ENSP00000497658.1:n.*2697A>C
ENST00000649781.2:c.2800A>C	ENSP00000497203.1:p.Ile934Leu
ENST00000685018.2:c.2983A>C	ENSP00000510194.2:p.Ile995Leu
ENST00000687278.2:c.2983A>C	ENSP00000509593.2:p.Ile995Leu
ENST00000699585.1:c.2983A>C	ENSP00000514456.1:p.Ile995Leu
ENST00000699598.1:c.2983A>C	ENSP00000514467.1:p.Ile995Leu
ENST00000699599.1:c.2983A>C	ENSP00000514468.1:p.Ile995Leu
ENST00000699600.1:c.2983A>C	ENSP00000514469.1:p.Ile995Leu
ENST00000699601.1:c.*1283A>C	ENSP00000514470.1:n.*1283A>C
ENST00000699602.1:c.2983A>C	ENSP00000514471.1:p.Ile995Leu
ENST00000699604.1:c.*2807A>C	ENSP00000514472.1:n.*2807A>C
ENST00000699605.1:c.2557A>C	ENSP00000514473.1:p.Ile853Leu
ENST00000687278.1:c.574A>C	ENSP00000509593.1:p.Ile192Leu
ENST00000003084.11:c.2983A>C MANE Select	ENSP00000003084.6:p.Ile995Leu
ENST00000647720.1:c.633A>C
ENST00000648260.1:c.1765A>C	ENSP00000497957.1:p.Ile589Leu
ENST00000649406.1:c.2800A>C	ENSP00000497965.1:p.Ile934Leu
ENST00000649781.1:c.2800A>C	ENSP00000497203.1:p.Ile934Leu
ENST00000003084.10:c.2983A>C	ENSP00000003084.6:p.Ile995Leu
ENST00000426809.5:c.2893A>C	ENSP00000389119.1:p.Ile965Leu
NM_000492.3:c.2983A>C , LRG_663t1:c.2983A>C	NP_000483.3:p.Ile995Leu
XM_011515751.1:c.3073A>C	XP_011514053.1:p.Ile1025Leu
XM_011515752.1:c.3073A>C	XP_011514054.1:p.Ile1025Leu
XM_011515753.1:c.2740A>C	XP_011514055.1:p.Ile914Leu
XM_011515754.1:c.2740A>C	XP_011514056.1:p.Ile914Leu
NM_000492.4:c.2983A>C MANE Select	NP_000483.3:p.Ile995Leu