Canonical Allele Identifier: CA368984780

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666980C>T , CM000669.2:g.117666980C>T	GRCh38
NC_000007.13:g.117307034C>T , CM000669.1:g.117307034C>T	GRCh37
NC_000007.12:g.117094270C>T	NCBI36
NG_016465.4:g.206197C>T , LRG_663:g.206197C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.4315C>T MANE Select	NP_000483.3:p.Gln1439Ter
ENST00000003084.11:c.4315C>T MANE Select	ENSP00000003084.6:p.Gln1439Ter
NM_000492.3:c.4315C>T , LRG_663t1:c.4315C>T	NP_000483.3:p.Gln1439Ter
ENST00000003084.10:c.4315C>T	ENSP00000003084.6:p.Gln1439Ter
ENST00000426809.5:c.4225C>T	ENSP00000389119.1:p.Gln1409Ter
ENST00000600166.1:c.368+1416C>T
ENST00000647720.1:c.1765C>T
ENST00000647720.2:c.*524C>T	ENSP00000497673.2:n.*524C>T
ENST00000647978.2:c.*4029C>T	ENSP00000497658.1:n.*4029C>T
ENST00000649781.1:c.4132C>T	ENSP00000497203.1:p.Gln1378Ter
ENST00000649781.2:c.4132C>T	ENSP00000497203.1:p.Gln1378Ter
ENST00000685018.1:c.1179C>T	ENSP00000510194.1:n.1179C>T
ENST00000685018.2:c.*528C>T	ENSP00000510194.2:n.*528C>T
ENST00000687278.1:c.2030-622C>T	ENSP00000509593.1:n.2030-622C>T
ENST00000687278.2:c.*896-622C>T	ENSP00000509593.2:n.*896-622C>T
ENST00000689011.1:c.1157C>T
ENST00000699585.1:c.*784C>T	ENSP00000514456.1:n.*784C>T
ENST00000699598.1:c.*21C>T	ENSP00000514467.1:n.*21C>T
ENST00000699599.1:c.*528C>T	ENSP00000514468.1:n.*528C>T
ENST00000699600.1:c.*904-622C>T	ENSP00000514469.1:n.*904-622C>T
ENST00000699601.1:c.*2690C>T	ENSP00000514470.1:n.*2690C>T
ENST00000699602.1:c.4309C>T	ENSP00000514471.1:p.Gln1437Ter
ENST00000699604.1:c.*4139C>T	ENSP00000514472.1:n.*4139C>T
ENST00000699605.1:c.3889C>T	ENSP00000514473.1:p.Gln1297Ter
ENST00000699606.1:n.3826C>T
XM_011515751.1:c.4405C>T	XP_011514053.1:p.Gln1469Ter
XM_011515753.1:c.4072C>T	XP_011514055.1:p.Gln1358Ter
XM_011515754.1:c.4072C>T	XP_011514056.1:p.Gln1358Ter