Canonical Allele Identifier: CA368987063

Gene: CFTR

Linked Data

• dbSNP Id: rs1290460154
• MyVariant Identifiers: chr7:g.117243750T>C (hg19) ; chr7:g.117603696T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603696T>C , CM000669.2:g.117603696T>C	GRCh38
NC_000007.13:g.117243750T>C , CM000669.1:g.117243750T>C	GRCh37
NC_000007.12:g.117030986T>C	NCBI36
NG_016465.4:g.142913T>C , LRG_663:g.142913T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2822T>C	ENSP00000497673.2:p.Leu941Pro
ENST00000647978.2:c.*2536T>C	ENSP00000497658.1:n.*2536T>C
ENST00000649781.2:c.2639T>C	ENSP00000497203.1:p.Leu880Pro
ENST00000685018.2:c.2822T>C	ENSP00000510194.2:p.Leu941Pro
ENST00000687278.2:c.2822T>C	ENSP00000509593.2:p.Leu941Pro
ENST00000699585.1:c.2822T>C	ENSP00000514456.1:p.Leu941Pro
ENST00000699598.1:c.2822T>C	ENSP00000514467.1:p.Leu941Pro
ENST00000699599.1:c.2822T>C	ENSP00000514468.1:p.Leu941Pro
ENST00000699600.1:c.2822T>C	ENSP00000514469.1:p.Leu941Pro
ENST00000699601.1:c.*1122T>C	ENSP00000514470.1:n.*1122T>C
ENST00000699602.1:c.2822T>C	ENSP00000514471.1:p.Leu941Pro
ENST00000699604.1:c.*2646T>C	ENSP00000514472.1:n.*2646T>C
ENST00000699605.1:c.2396T>C	ENSP00000514473.1:p.Leu799Pro
ENST00000687278.1:c.413T>C	ENSP00000509593.1:p.Leu138Pro
ENST00000003084.11:c.2822T>C MANE Select	ENSP00000003084.6:p.Leu941Pro
ENST00000647720.1:c.472T>C
ENST00000648260.1:c.1604T>C	ENSP00000497957.1:p.Leu535Pro
ENST00000649406.1:c.2639T>C	ENSP00000497965.1:p.Leu880Pro
ENST00000649781.1:c.2639T>C	ENSP00000497203.1:p.Leu880Pro
ENST00000003084.10:c.2822T>C	ENSP00000003084.6:p.Leu941Pro
ENST00000426809.5:c.2732T>C	ENSP00000389119.1:p.Leu911Pro
NM_000492.3:c.2822T>C , LRG_663t1:c.2822T>C	NP_000483.3:p.Leu941Pro
XM_011515751.1:c.2912T>C	XP_011514053.1:p.Leu971Pro
XM_011515752.1:c.2912T>C	XP_011514054.1:p.Leu971Pro
XM_011515753.1:c.2579T>C	XP_011514055.1:p.Leu860Pro
XM_011515754.1:c.2579T>C	XP_011514056.1:p.Leu860Pro
NM_000492.4:c.2822T>C MANE Select	NP_000483.3:p.Leu941Pro