Canonical Allele Identifier: CA327347

Gene: CFTR

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652889T>A , CM000669.2:g.117652889T>A	GRCh38
NC_000007.13:g.117292943T>A , CM000669.1:g.117292943T>A	GRCh37
NC_000007.12:g.117080179T>A	NCBI36
NG_016465.4:g.192106T>A , LRG_663:g.192106T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*130T>A	ENSP00000497673.2:n.*130T>A
ENST00000647978.2:c.*3635T>A	ENSP00000497658.1:n.*3635T>A
ENST00000649781.2:c.3738T>A	ENSP00000497203.1:p.Tyr1246Ter
ENST00000685018.2:c.*134T>A	ENSP00000510194.2:n.*134T>A
ENST00000687278.2:c.*574T>A	ENSP00000509593.2:n.*574T>A
ENST00000699585.1:c.*130T>A	ENSP00000514456.1:n.*130T>A
ENST00000699598.1:c.3921T>A	ENSP00000514467.1:p.Tyr1307Ter
ENST00000699599.1:c.*134T>A	ENSP00000514468.1:n.*134T>A
ENST00000699600.1:c.*582T>A	ENSP00000514469.1:n.*582T>A
ENST00000699601.1:c.*2296T>A	ENSP00000514470.1:n.*2296T>A
ENST00000699602.1:c.3915T>A	ENSP00000514471.1:p.Tyr1305Ter
ENST00000699604.1:c.*3745T>A	ENSP00000514472.1:n.*3745T>A
ENST00000699605.1:c.3495T>A	ENSP00000514473.1:p.Tyr1165Ter
ENST00000699606.1:n.2089T>A
ENST00000685018.1:c.785T>A	ENSP00000510194.1:n.785T>A
ENST00000687278.1:c.1708T>A	ENSP00000509593.1:n.1708T>A
ENST00000689011.1:c.503T>A
ENST00000003084.11:c.3921T>A MANE Select	ENSP00000003084.6:p.Tyr1307Ter
ENST00000647720.1:c.1371T>A
ENST00000649781.1:c.3738T>A	ENSP00000497203.1:p.Tyr1246Ter
ENST00000003084.10:c.3921T>A	ENSP00000003084.6:p.Tyr1307Ter
ENST00000426809.5:c.3831T>A	ENSP00000389119.1:p.Tyr1277Ter
ENST00000600166.1:c.47T>A
NM_000492.3:c.3921T>A , LRG_663t1:c.3921T>A	NP_000483.3:p.Tyr1307Ter
XM_011515751.1:c.4011T>A	XP_011514053.1:p.Tyr1337Ter
XM_011515752.1:c.4011T>A	XP_011514054.1:p.Tyr1337Ter
XM_011515753.1:c.3678T>A	XP_011514055.1:p.Tyr1226Ter
XM_011515754.1:c.3678T>A	XP_011514056.1:p.Tyr1226Ter
NM_000492.4:c.3921T>A MANE Select	NP_000483.3:p.Tyr1307Ter