Canonical Allele Identifier: CA368974711

Gene: CFTR

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642490T>C , CM000669.2:g.117642490T>C	GRCh38
NC_000007.13:g.117282544T>C , CM000669.1:g.117282544T>C	GRCh37
NC_000007.12:g.117069780T>C	NCBI36
NG_016465.4:g.181707T>C , LRG_663:g.181707T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3570T>C	ENSP00000497673.2:p.Phe1190=
ENST00000647978.2:c.*3484T>C	ENSP00000497658.1:n.*3484T>C
ENST00000649781.2:c.3587T>C	ENSP00000497203.1:p.Phe1196Ser
ENST00000685018.2:c.3770T>C	ENSP00000510194.2:p.Phe1257Ser
ENST00000687278.2:c.*423T>C	ENSP00000509593.2:n.*423T>C
ENST00000699585.1:c.3570T>C	ENSP00000514456.1:p.Phe1190=
ENST00000699598.1:c.3770T>C	ENSP00000514467.1:p.Phe1257Ser
ENST00000699599.1:c.3770T>C	ENSP00000514468.1:p.Phe1257Ser
ENST00000699600.1:c.*431T>C	ENSP00000514469.1:n.*431T>C
ENST00000699601.1:c.*2145T>C	ENSP00000514470.1:n.*2145T>C
ENST00000699602.1:c.3764T>C	ENSP00000514471.1:p.Phe1255Ser
ENST00000699604.1:c.*3594T>C	ENSP00000514472.1:n.*3594T>C
ENST00000699605.1:c.3344T>C	ENSP00000514473.1:p.Phe1115Ser
ENST00000685018.1:c.518T>C	ENSP00000510194.1:p.Phe173Ser
ENST00000687278.1:c.1557T>C	ENSP00000509593.1:n.1557T>C
ENST00000689011.1:c.352T>C
ENST00000003084.11:c.3770T>C MANE Select	ENSP00000003084.6:p.Phe1257Ser
ENST00000647720.1:c.1220T>C
ENST00000649781.1:c.3587T>C	ENSP00000497203.1:p.Phe1196Ser
ENST00000003084.10:c.3770T>C	ENSP00000003084.6:p.Phe1257Ser
ENST00000426809.5:c.3680T>C	ENSP00000389119.1:p.Phe1227Ser
NM_000492.3:c.3770T>C , LRG_663t1:c.3770T>C	NP_000483.3:p.Phe1257Ser
XM_011515751.1:c.3860T>C	XP_011514053.1:p.Phe1287Ser
XM_011515752.1:c.3860T>C	XP_011514054.1:p.Phe1287Ser
XM_011515753.1:c.3527T>C	XP_011514055.1:p.Phe1176Ser
XM_011515754.1:c.3527T>C	XP_011514056.1:p.Phe1176Ser
NM_000492.4:c.3770T>C MANE Select	NP_000483.3:p.Phe1257Ser