Canonical Allele Identifier: CA368982374

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304809G>T (hg19) ; chr7:g.117664755G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664755G>T , CM000669.2:g.117664755G>T	GRCh38
NC_000007.13:g.117304809G>T , CM000669.1:g.117304809G>T	GRCh37
NC_000007.12:g.117092045G>T	NCBI36
NG_016465.4:g.203972G>T , LRG_663:g.203972G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*240G>T	ENSP00000497673.2:n.*240G>T
ENST00000647978.2:c.*3745G>T	ENSP00000497658.1:n.*3745G>T
ENST00000649781.2:c.3848G>T	ENSP00000497203.1:p.Cys1283Phe
ENST00000685018.2:c.*244G>T	ENSP00000510194.2:n.*244G>T
ENST00000687278.2:c.*684G>T	ENSP00000509593.2:n.*684G>T
ENST00000699585.1:c.*240G>T	ENSP00000514456.1:n.*240G>T
ENST00000699598.1:c.4031G>T	ENSP00000514467.1:p.Cys1344Phe
ENST00000699599.1:c.*244G>T	ENSP00000514468.1:n.*244G>T
ENST00000699600.1:c.*692G>T	ENSP00000514469.1:n.*692G>T
ENST00000699601.1:c.*2406G>T	ENSP00000514470.1:n.*2406G>T
ENST00000699602.1:c.4025G>T	ENSP00000514471.1:p.Cys1342Phe
ENST00000699604.1:c.*3855G>T	ENSP00000514472.1:n.*3855G>T
ENST00000699605.1:c.3605G>T	ENSP00000514473.1:p.Cys1202Phe
ENST00000699606.1:n.2199G>T
ENST00000685018.1:c.895G>T	ENSP00000510194.1:n.895G>T
ENST00000687278.1:c.1818G>T	ENSP00000509593.1:n.1818G>T
ENST00000689011.1:c.613G>T
ENST00000003084.11:c.4031G>T MANE Select	ENSP00000003084.6:p.Cys1344Phe
ENST00000647720.1:c.1481G>T
ENST00000649781.1:c.3848G>T	ENSP00000497203.1:p.Cys1283Phe
ENST00000003084.10:c.4031G>T	ENSP00000003084.6:p.Cys1344Phe
ENST00000426809.5:c.3941G>T	ENSP00000389119.1:p.Cys1314Phe
ENST00000600166.1:c.157G>T
NM_000492.3:c.4031G>T , LRG_663t1:c.4031G>T	NP_000483.3:p.Cys1344Phe
XM_011515751.1:c.4121G>T	XP_011514053.1:p.Cys1374Phe
XM_011515752.1:c.4121G>T	XP_011514054.1:p.Cys1374Phe
XM_011515753.1:c.3788G>T	XP_011514055.1:p.Cys1263Phe
XM_011515754.1:c.3788G>T	XP_011514056.1:p.Cys1263Phe
NM_000492.4:c.4031G>T MANE Select	NP_000483.3:p.Cys1344Phe