Canonical Allele Identifier: CA327376

Gene: CFTR

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664727C>T , CM000669.2:g.117664727C>T	GRCh38
NC_000007.13:g.117304781C>T , CM000669.1:g.117304781C>T	GRCh37
NC_000007.12:g.117092017C>T	NCBI36
NG_016465.4:g.203944C>T , LRG_663:g.203944C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*212C>T	ENSP00000497673.2:n.*212C>T
ENST00000647978.2:c.*3717C>T	ENSP00000497658.1:n.*3717C>T
ENST00000649781.2:c.3820C>T	ENSP00000497203.1:p.Leu1274Phe
ENST00000685018.2:c.*216C>T	ENSP00000510194.2:n.*216C>T
ENST00000687278.2:c.*656C>T	ENSP00000509593.2:n.*656C>T
ENST00000699585.1:c.*212C>T	ENSP00000514456.1:n.*212C>T
ENST00000699598.1:c.4003C>T	ENSP00000514467.1:p.Leu1335Phe
ENST00000699599.1:c.*216C>T	ENSP00000514468.1:n.*216C>T
ENST00000699600.1:c.*664C>T	ENSP00000514469.1:n.*664C>T
ENST00000699601.1:c.*2378C>T	ENSP00000514470.1:n.*2378C>T
ENST00000699602.1:c.3997C>T	ENSP00000514471.1:p.Leu1333Phe
ENST00000699604.1:c.*3827C>T	ENSP00000514472.1:n.*3827C>T
ENST00000699605.1:c.3577C>T	ENSP00000514473.1:p.Leu1193Phe
ENST00000699606.1:n.2171C>T
ENST00000685018.1:c.867C>T	ENSP00000510194.1:n.867C>T
ENST00000687278.1:c.1790C>T	ENSP00000509593.1:n.1790C>T
ENST00000689011.1:c.585C>T
ENST00000003084.11:c.4003C>T MANE Select	ENSP00000003084.6:p.Leu1335Phe
ENST00000647720.1:c.1453C>T
ENST00000649781.1:c.3820C>T	ENSP00000497203.1:p.Leu1274Phe
ENST00000003084.10:c.4003C>T	ENSP00000003084.6:p.Leu1335Phe
ENST00000426809.5:c.3913C>T	ENSP00000389119.1:p.Leu1305Phe
ENST00000600166.1:c.129C>T
NM_000492.3:c.4003C>T , LRG_663t1:c.4003C>T	NP_000483.3:p.Leu1335Phe
XM_011515751.1:c.4093C>T	XP_011514053.1:p.Leu1365Phe
XM_011515752.1:c.4093C>T	XP_011514054.1:p.Leu1365Phe
XM_011515753.1:c.3760C>T	XP_011514055.1:p.Leu1254Phe
XM_011515754.1:c.3760C>T	XP_011514056.1:p.Leu1254Phe
NM_000492.4:c.4003C>T MANE Select	NP_000483.3:p.Leu1335Phe