Canonical Allele Identifier: CA368982605

Gene: CFTR

Linked Data

• ClinVar Variation Id: 818129
• ClinVar RCV Id: RCV001009427
• dbSNP Id: rs397508666
• MyVariant Identifiers: chr7:g.117304829A>T (hg19) ; chr7:g.117664775A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664775A>T , CM000669.2:g.117664775A>T	GRCh38
NC_000007.13:g.117304829A>T , CM000669.1:g.117304829A>T	GRCh37
NC_000007.12:g.117092065A>T	NCBI36
NG_016465.4:g.203992A>T , LRG_663:g.203992A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*260A>T	ENSP00000497673.2:n.*260A>T
ENST00000647978.2:c.*3765A>T	ENSP00000497658.1:n.*3765A>T
ENST00000649781.2:c.3868A>T	ENSP00000497203.1:p.Lys1290Ter
ENST00000685018.2:c.*264A>T	ENSP00000510194.2:n.*264A>T
ENST00000687278.2:c.*704A>T	ENSP00000509593.2:n.*704A>T
ENST00000699585.1:c.*260A>T	ENSP00000514456.1:n.*260A>T
ENST00000699598.1:c.4051A>T	ENSP00000514467.1:p.Lys1351Ter
ENST00000699599.1:c.*264A>T	ENSP00000514468.1:n.*264A>T
ENST00000699600.1:c.*712A>T	ENSP00000514469.1:n.*712A>T
ENST00000699601.1:c.*2426A>T	ENSP00000514470.1:n.*2426A>T
ENST00000699602.1:c.4045A>T	ENSP00000514471.1:p.Lys1349Ter
ENST00000699604.1:c.*3875A>T	ENSP00000514472.1:n.*3875A>T
ENST00000699605.1:c.3625A>T	ENSP00000514473.1:p.Lys1209Ter
ENST00000699606.1:n.2219A>T
ENST00000685018.1:c.915A>T	ENSP00000510194.1:n.915A>T
ENST00000687278.1:c.1838A>T	ENSP00000509593.1:n.1838A>T
ENST00000689011.1:c.633A>T
ENST00000003084.11:c.4051A>T MANE Select	ENSP00000003084.6:p.Lys1351Ter
ENST00000647720.1:c.1501A>T
ENST00000649781.1:c.3868A>T	ENSP00000497203.1:p.Lys1290Ter
ENST00000003084.10:c.4051A>T	ENSP00000003084.6:p.Lys1351Ter
ENST00000426809.5:c.3961A>T	ENSP00000389119.1:p.Lys1321Ter
ENST00000600166.1:c.177A>T
NM_000492.3:c.4051A>T , LRG_663t1:c.4051A>T	NP_000483.3:p.Lys1351Ter
XM_011515751.1:c.4141A>T	XP_011514053.1:p.Lys1381Ter
XM_011515752.1:c.4141A>T	XP_011514054.1:p.Lys1381Ter
XM_011515753.1:c.3808A>T	XP_011514055.1:p.Lys1270Ter
XM_011515754.1:c.3808A>T	XP_011514056.1:p.Lys1270Ter
NM_000492.4:c.4051A>T MANE Select	NP_000483.3:p.Lys1351Ter