Canonical Allele Identifier: CA457227943

Gene: CFTR

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603613T>C , CM000669.2:g.117603613T>C	GRCh38
NC_000007.13:g.117243667T>C , CM000669.1:g.117243667T>C	GRCh37
NC_000007.12:g.117030903T>C	NCBI36
NG_016465.4:g.142830T>C , LRG_663:g.142830T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2739T>C	ENSP00000497673.2:p.Tyr913=
ENST00000647978.2:c.*2453T>C	ENSP00000497658.1:n.*2453T>C
ENST00000649781.2:c.2556T>C	ENSP00000497203.1:p.Tyr852=
ENST00000685018.2:c.2739T>C	ENSP00000510194.2:p.Tyr913=
ENST00000687278.2:c.2739T>C	ENSP00000509593.2:p.Tyr913=
ENST00000699585.1:c.2739T>C	ENSP00000514456.1:p.Tyr913=
ENST00000699598.1:c.2739T>C	ENSP00000514467.1:p.Tyr913=
ENST00000699599.1:c.2739T>C	ENSP00000514468.1:p.Tyr913=
ENST00000699600.1:c.2739T>C	ENSP00000514469.1:p.Tyr913=
ENST00000699601.1:c.*1039T>C	ENSP00000514470.1:n.*1039T>C
ENST00000699602.1:c.2739T>C	ENSP00000514471.1:p.Tyr913=
ENST00000699604.1:c.*2563T>C	ENSP00000514472.1:n.*2563T>C
ENST00000699605.1:c.2313T>C	ENSP00000514473.1:p.Tyr771=
ENST00000687278.1:c.330T>C	ENSP00000509593.1:p.Tyr110=
ENST00000003084.11:c.2739T>C MANE Select	ENSP00000003084.6:p.Tyr913=
ENST00000647720.1:c.389T>C
ENST00000648260.1:c.1521T>C	ENSP00000497957.1:p.Tyr507=
ENST00000649406.1:c.2556T>C	ENSP00000497965.1:p.Tyr852=
ENST00000649781.1:c.2556T>C	ENSP00000497203.1:p.Tyr852=
ENST00000003084.10:c.2739T>C	ENSP00000003084.6:p.Tyr913=
ENST00000426809.5:c.2649T>C	ENSP00000389119.1:p.Tyr883=
NM_000492.3:c.2739T>C , LRG_663t1:c.2739T>C	NP_000483.3:p.Tyr913=
XM_011515751.1:c.2829T>C	XP_011514053.1:p.Tyr943=
XM_011515752.1:c.2829T>C	XP_011514054.1:p.Tyr943=
XM_011515753.1:c.2496T>C	XP_011514055.1:p.Tyr832=
XM_011515754.1:c.2496T>C	XP_011514056.1:p.Tyr832=
NM_000492.4:c.2739T>C MANE Select	NP_000483.3:p.Tyr913=