Canonical Allele Identifier: CA368978635

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652917A>T , CM000669.2:g.117652917A>T	GRCh38
NC_000007.13:g.117292971A>T , CM000669.1:g.117292971A>T	GRCh37
NC_000007.12:g.117080207A>T	NCBI36
NG_016465.4:g.192134A>T , LRG_663:g.192134A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3949A>T MANE Select	NP_000483.3:p.Lys1317Ter
ENST00000003084.11:c.3949A>T MANE Select	ENSP00000003084.6:p.Lys1317Ter
NM_000492.3:c.3949A>T , LRG_663t1:c.3949A>T	NP_000483.3:p.Lys1317Ter
ENST00000003084.10:c.3949A>T	ENSP00000003084.6:p.Lys1317Ter
ENST00000426809.5:c.3859A>T	ENSP00000389119.1:p.Lys1287Ter
ENST00000600166.1:c.75A>T
ENST00000647720.1:c.1399A>T
ENST00000647720.2:c.*158A>T	ENSP00000497673.2:n.*158A>T
ENST00000647978.2:c.*3663A>T	ENSP00000497658.1:n.*3663A>T
ENST00000649781.1:c.3766A>T	ENSP00000497203.1:p.Lys1256Ter
ENST00000649781.2:c.3766A>T	ENSP00000497203.1:p.Lys1256Ter
ENST00000685018.1:c.813A>T	ENSP00000510194.1:n.813A>T
ENST00000685018.2:c.*162A>T	ENSP00000510194.2:n.*162A>T
ENST00000687278.1:c.1736A>T	ENSP00000509593.1:n.1736A>T
ENST00000687278.2:c.*602A>T	ENSP00000509593.2:n.*602A>T
ENST00000689011.1:c.531A>T
ENST00000699585.1:c.*158A>T	ENSP00000514456.1:n.*158A>T
ENST00000699598.1:c.3949A>T	ENSP00000514467.1:p.Lys1317Ter
ENST00000699599.1:c.*162A>T	ENSP00000514468.1:n.*162A>T
ENST00000699600.1:c.*610A>T	ENSP00000514469.1:n.*610A>T
ENST00000699601.1:c.*2324A>T	ENSP00000514470.1:n.*2324A>T
ENST00000699602.1:c.3943A>T	ENSP00000514471.1:p.Lys1315Ter
ENST00000699604.1:c.*3773A>T	ENSP00000514472.1:n.*3773A>T
ENST00000699605.1:c.3523A>T	ENSP00000514473.1:p.Lys1175Ter
ENST00000699606.1:n.2117A>T
XM_011515751.1:c.4039A>T	XP_011514053.1:p.Lys1347Ter
XM_011515752.1:c.4039A>T	XP_011514054.1:p.Lys1347Ter
XM_011515753.1:c.3706A>T	XP_011514055.1:p.Lys1236Ter
XM_011515754.1:c.3706A>T	XP_011514056.1:p.Lys1236Ter