Canonical Allele Identifier: CA326841

Gene: CFTR

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117594986C>A , CM000669.2:g.117594986C>A	GRCh38
NC_000007.13:g.117235040C>A , CM000669.1:g.117235040C>A	GRCh37
NC_000007.12:g.117022276C>A	NCBI36
NG_016465.4:g.134203C>A , LRG_663:g.134203C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2547C>A	ENSP00000497673.2:p.Tyr849Ter
ENST00000647978.2:c.*2261C>A	ENSP00000497658.1:n.*2261C>A
ENST00000649781.2:c.2364C>A	ENSP00000497203.1:p.Tyr788Ter
ENST00000685018.2:c.2547C>A	ENSP00000510194.2:p.Tyr849Ter
ENST00000687278.2:c.2547C>A	ENSP00000509593.2:p.Tyr849Ter
ENST00000699585.1:c.2547C>A	ENSP00000514456.1:p.Tyr849Ter
ENST00000699598.1:c.2547C>A	ENSP00000514467.1:p.Tyr849Ter
ENST00000699599.1:c.2547C>A	ENSP00000514468.1:p.Tyr849Ter
ENST00000699600.1:c.2547C>A	ENSP00000514469.1:p.Tyr849Ter
ENST00000699601.1:c.*847C>A	ENSP00000514470.1:n.*847C>A
ENST00000699602.1:c.2547C>A	ENSP00000514471.1:p.Tyr849Ter
ENST00000699604.1:c.*2371C>A	ENSP00000514472.1:n.*2371C>A
ENST00000699605.1:c.2121C>A	ENSP00000514473.1:p.Tyr707Ter
ENST00000687278.1:c.138C>A	ENSP00000509593.1:p.Tyr46Ter
ENST00000003084.11:c.2547C>A MANE Select	ENSP00000003084.6:p.Tyr849Ter
ENST00000647720.1:c.197C>A
ENST00000647978.1:c.*2261C>A	ENSP00000497658.1:n.*2261C>A
ENST00000648260.1:c.1402-7840C>A	ENSP00000497957.1:n.1402-7840C>A
ENST00000649406.1:c.2364C>A	ENSP00000497965.1:p.Tyr788Ter
ENST00000649781.1:c.2364C>A	ENSP00000497203.1:p.Tyr788Ter
ENST00000003084.10:c.2547C>A	ENSP00000003084.6:p.Tyr849Ter
ENST00000426809.5:c.2457C>A	ENSP00000389119.1:p.Tyr819Ter
NM_000492.3:c.2547C>A , LRG_663t1:c.2547C>A	NP_000483.3:p.Tyr849Ter
XM_011515751.1:c.2637C>A	XP_011514053.1:p.Tyr879Ter
XM_011515752.1:c.2637C>A	XP_011514054.1:p.Tyr879Ter
XM_011515753.1:c.2304C>A	XP_011514055.1:p.Tyr768Ter
XM_011515754.1:c.2304C>A	XP_011514056.1:p.Tyr768Ter
NM_000492.4:c.2547C>A MANE Select	NP_000483.3:p.Tyr849Ter