Canonical Allele Identifier: CA368982752

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304866A>T (hg19) ; chr7:g.117664812A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664812A>T , CM000669.2:g.117664812A>T	GRCh38
NC_000007.13:g.117304866A>T , CM000669.1:g.117304866A>T	GRCh37
NC_000007.12:g.117092102A>T	NCBI36
NG_016465.4:g.204029A>T , LRG_663:g.204029A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*297A>T	ENSP00000497673.2:n.*297A>T
ENST00000647978.2:c.*3802A>T	ENSP00000497658.1:n.*3802A>T
ENST00000649781.2:c.3905A>T	ENSP00000497203.1:p.Lys1302Met
ENST00000685018.2:c.*301A>T	ENSP00000510194.2:n.*301A>T
ENST00000687278.2:c.*741A>T	ENSP00000509593.2:n.*741A>T
ENST00000699585.1:c.*297A>T	ENSP00000514456.1:n.*297A>T
ENST00000699598.1:c.4088A>T	ENSP00000514467.1:p.Lys1363Met
ENST00000699599.1:c.*301A>T	ENSP00000514468.1:n.*301A>T
ENST00000699600.1:c.*749A>T	ENSP00000514469.1:n.*749A>T
ENST00000699601.1:c.*2463A>T	ENSP00000514470.1:n.*2463A>T
ENST00000699602.1:c.4082A>T	ENSP00000514471.1:p.Lys1361Met
ENST00000699604.1:c.*3912A>T	ENSP00000514472.1:n.*3912A>T
ENST00000699605.1:c.3662A>T	ENSP00000514473.1:p.Lys1221Met
ENST00000699606.1:n.2256A>T
ENST00000685018.1:c.952A>T	ENSP00000510194.1:n.952A>T
ENST00000687278.1:c.1875A>T	ENSP00000509593.1:n.1875A>T
ENST00000689011.1:c.670A>T
ENST00000003084.11:c.4088A>T MANE Select	ENSP00000003084.6:p.Lys1363Met
ENST00000647720.1:c.1538A>T
ENST00000649781.1:c.3905A>T	ENSP00000497203.1:p.Lys1302Met
ENST00000003084.10:c.4088A>T	ENSP00000003084.6:p.Lys1363Met
ENST00000426809.5:c.3998A>T	ENSP00000389119.1:p.Lys1333Met
ENST00000600166.1:c.214A>T
NM_000492.3:c.4088A>T , LRG_663t1:c.4088A>T	NP_000483.3:p.Lys1363Met
XM_011515751.1:c.4178A>T	XP_011514053.1:p.Lys1393Met
XM_011515752.1:c.4178A>T	XP_011514054.1:p.Lys1393Met
XM_011515753.1:c.3845A>T	XP_011514055.1:p.Lys1282Met
XM_011515754.1:c.3845A>T	XP_011514056.1:p.Lys1282Met
NM_000492.4:c.4088A>T MANE Select	NP_000483.3:p.Lys1363Met