Canonical Allele Identifier: CA4451697

Gene: CFTR

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667022C>T , CM000669.2:g.117667022C>T	GRCh38
NC_000007.13:g.117307076C>T , CM000669.1:g.117307076C>T	GRCh37
NC_000007.12:g.117094312C>T	NCBI36
NG_016465.4:g.206239C>T , LRG_663:g.206239C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*566C>T	ENSP00000497673.2:n.*566C>T
ENST00000647978.2:c.*4071C>T	ENSP00000497658.1:n.*4071C>T
ENST00000649781.2:c.4174C>T	ENSP00000497203.1:p.Arg1392Trp
ENST00000685018.2:c.*570C>T	ENSP00000510194.2:n.*570C>T
ENST00000687278.2:c.*896-580C>T	ENSP00000509593.2:n.*896-580C>T
ENST00000699585.1:c.*826C>T	ENSP00000514456.1:n.*826C>T
ENST00000699598.1:c.*63C>T	ENSP00000514467.1:n.*63C>T
ENST00000699599.1:c.*570C>T	ENSP00000514468.1:n.*570C>T
ENST00000699600.1:c.*904-580C>T	ENSP00000514469.1:n.*904-580C>T
ENST00000699601.1:c.*2732C>T	ENSP00000514470.1:n.*2732C>T
ENST00000699602.1:c.4351C>T	ENSP00000514471.1:p.Arg1451Trp
ENST00000699604.1:c.*4181C>T	ENSP00000514472.1:n.*4181C>T
ENST00000699605.1:c.3931C>T	ENSP00000514473.1:p.Arg1311Trp
ENST00000699606.1:n.3868C>T
ENST00000685018.1:c.1221C>T	ENSP00000510194.1:n.1221C>T
ENST00000687278.1:c.2030-580C>T	ENSP00000509593.1:n.2030-580C>T
ENST00000689011.1:c.1199C>T
ENST00000003084.11:c.4357C>T MANE Select	ENSP00000003084.6:p.Arg1453Trp
ENST00000647720.1:c.1807C>T
ENST00000649781.1:c.4174C>T	ENSP00000497203.1:p.Arg1392Trp
ENST00000003084.10:c.4357C>T	ENSP00000003084.6:p.Arg1453Trp
ENST00000426809.5:c.4267C>T	ENSP00000389119.1:p.Arg1423Trp
ENST00000600166.1:c.368+1458C>T
NM_000492.3:c.4357C>T , LRG_663t1:c.4357C>T	NP_000483.3:p.Arg1453Trp
XM_011515751.1:c.4447C>T	XP_011514053.1:p.Arg1483Trp
XM_011515753.1:c.4114C>T	XP_011514055.1:p.Arg1372Trp
XM_011515754.1:c.4114C>T	XP_011514056.1:p.Arg1372Trp
NM_000492.4:c.4357C>T MANE Select	NP_000483.3:p.Arg1453Trp