Canonical Allele Identifier: CA368982788

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304871A>T (hg19) ; chr7:g.117664817A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664817A>T , CM000669.2:g.117664817A>T	GRCh38
NC_000007.13:g.117304871A>T , CM000669.1:g.117304871A>T	GRCh37
NC_000007.12:g.117092107A>T	NCBI36
NG_016465.4:g.204034A>T , LRG_663:g.204034A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*302A>T	ENSP00000497673.2:n.*302A>T
ENST00000647978.2:c.*3807A>T	ENSP00000497658.1:n.*3807A>T
ENST00000649781.2:c.3910A>T	ENSP00000497203.1:p.Lys1304Ter
ENST00000685018.2:c.*306A>T	ENSP00000510194.2:n.*306A>T
ENST00000687278.2:c.*746A>T	ENSP00000509593.2:n.*746A>T
ENST00000699585.1:c.*302A>T	ENSP00000514456.1:n.*302A>T
ENST00000699598.1:c.4093A>T	ENSP00000514467.1:p.Lys1365Ter
ENST00000699599.1:c.*306A>T	ENSP00000514468.1:n.*306A>T
ENST00000699600.1:c.*754A>T	ENSP00000514469.1:n.*754A>T
ENST00000699601.1:c.*2468A>T	ENSP00000514470.1:n.*2468A>T
ENST00000699602.1:c.4087A>T	ENSP00000514471.1:p.Lys1363Ter
ENST00000699604.1:c.*3917A>T	ENSP00000514472.1:n.*3917A>T
ENST00000699605.1:c.3667A>T	ENSP00000514473.1:p.Lys1223Ter
ENST00000699606.1:n.2261A>T
ENST00000685018.1:c.957A>T	ENSP00000510194.1:n.957A>T
ENST00000687278.1:c.1880A>T	ENSP00000509593.1:n.1880A>T
ENST00000689011.1:c.675A>T
ENST00000003084.11:c.4093A>T MANE Select	ENSP00000003084.6:p.Lys1365Ter
ENST00000647720.1:c.1543A>T
ENST00000649781.1:c.3910A>T	ENSP00000497203.1:p.Lys1304Ter
ENST00000003084.10:c.4093A>T	ENSP00000003084.6:p.Lys1365Ter
ENST00000426809.5:c.4003A>T	ENSP00000389119.1:p.Lys1335Ter
ENST00000600166.1:c.219A>T
NM_000492.3:c.4093A>T , LRG_663t1:c.4093A>T	NP_000483.3:p.Lys1365Ter
XM_011515751.1:c.4183A>T	XP_011514053.1:p.Lys1395Ter
XM_011515752.1:c.4183A>T	XP_011514054.1:p.Lys1395Ter
XM_011515753.1:c.3850A>T	XP_011514055.1:p.Lys1284Ter
XM_011515754.1:c.3850A>T	XP_011514056.1:p.Lys1284Ter
NM_000492.4:c.4093A>T MANE Select	NP_000483.3:p.Lys1365Ter