Canonical Allele Identifier: CA368993684

Gene: CFTR

Linked Data

• ClinVar Variation Id: 654289
• ClinVar RCV Id: RCV000810218
• dbSNP Id: rs1584824269
• MyVariant Identifiers: chr7:g.117254751T>A (hg19) ; chr7:g.117614697T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614697T>A , CM000669.2:g.117614697T>A	GRCh38
NC_000007.13:g.117254751T>A , CM000669.1:g.117254751T>A	GRCh37
NC_000007.12:g.117041987T>A	NCBI36
NG_016465.4:g.153914T>A , LRG_663:g.153914T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3452T>A	ENSP00000497673.2:p.Ile1151Lys
ENST00000647978.2:c.*3166T>A	ENSP00000497658.1:n.*3166T>A
ENST00000649781.2:c.3269T>A	ENSP00000497203.1:p.Ile1090Lys
ENST00000685018.2:c.3452T>A	ENSP00000510194.2:p.Ile1151Lys
ENST00000687278.2:c.3452T>A	ENSP00000509593.2:p.Ile1151Lys
ENST00000699585.1:c.3452T>A	ENSP00000514456.1:p.Ile1151Lys
ENST00000699598.1:c.3452T>A	ENSP00000514467.1:p.Ile1151Lys
ENST00000699599.1:c.3452T>A	ENSP00000514468.1:p.Ile1151Lys
ENST00000699600.1:c.3452T>A	ENSP00000514469.1:p.Ile1151Lys
ENST00000699601.1:c.*1827T>A	ENSP00000514470.1:n.*1827T>A
ENST00000699602.1:c.3446T>A	ENSP00000514471.1:p.Ile1149Lys
ENST00000699604.1:c.*3276T>A	ENSP00000514472.1:n.*3276T>A
ENST00000699605.1:c.3026T>A	ENSP00000514473.1:p.Ile1009Lys
ENST00000685018.1:c.200T>A	ENSP00000510194.1:p.Ile67Lys
ENST00000687278.1:c.1043T>A	ENSP00000509593.1:p.Ile348Lys
ENST00000689011.1:c.34T>A
ENST00000003084.11:c.3452T>A MANE Select	ENSP00000003084.6:p.Ile1151Lys
ENST00000647720.1:c.1102T>A
ENST00000648260.1:c.2234T>A	ENSP00000497957.1:p.Ile745Lys
ENST00000649406.1:c.3269T>A	ENSP00000497965.1:p.Ile1090Lys
ENST00000649781.1:c.3269T>A	ENSP00000497203.1:p.Ile1090Lys
ENST00000003084.10:c.3452T>A	ENSP00000003084.6:p.Ile1151Lys
ENST00000426809.5:c.3362T>A	ENSP00000389119.1:p.Ile1121Lys
ENST00000468795.1:c.277T>A
NM_000492.3:c.3452T>A , LRG_663t1:c.3452T>A	NP_000483.3:p.Ile1151Lys
XM_011515751.1:c.3542T>A	XP_011514053.1:p.Ile1181Lys
XM_011515752.1:c.3542T>A	XP_011514054.1:p.Ile1181Lys
XM_011515753.1:c.3209T>A	XP_011514055.1:p.Ile1070Lys
XM_011515754.1:c.3209T>A	XP_011514056.1:p.Ile1070Lys
NM_000492.4:c.3452T>A MANE Select	NP_000483.3:p.Ile1151Lys