Canonical Allele Identifier: CA368997461

Gene: CFTR

Linked Data

• ClinVar Variation Id: 633166
• ClinVar RCV Id: RCV000781284 ; RCV001825530
• dbSNP Id: rs759116351
• MyVariant Identifiers: chr7:g.117267789G>A (hg19) ; chr7:g.117627735G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627735G>A , CM000669.2:g.117627735G>A	GRCh38
NC_000007.13:g.117267789G>A , CM000669.1:g.117267789G>A	GRCh37
NC_000007.12:g.117055025G>A	NCBI36
NG_016465.4:g.166952G>A , LRG_663:g.166952G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+165G>A	ENSP00000497673.2:n.3517+165G>A
ENST00000647978.2:c.*3396G>A	ENSP00000497658.1:n.*3396G>A
ENST00000649781.2:c.3499G>A	ENSP00000497203.1:p.Glu1167Lys
ENST00000685018.2:c.3682G>A	ENSP00000510194.2:p.Glu1228Lys
ENST00000687278.2:c.*335G>A	ENSP00000509593.2:n.*335G>A
ENST00000699585.1:c.3517+165G>A	ENSP00000514456.1:n.3517+165G>A
ENST00000699598.1:c.3682G>A	ENSP00000514467.1:p.Glu1228Lys
ENST00000699599.1:c.3682G>A	ENSP00000514468.1:p.Glu1228Lys
ENST00000699600.1:c.*343G>A	ENSP00000514469.1:n.*343G>A
ENST00000699601.1:c.*2057G>A	ENSP00000514470.1:n.*2057G>A
ENST00000699602.1:c.3676G>A	ENSP00000514471.1:p.Glu1226Lys
ENST00000699604.1:c.*3506G>A	ENSP00000514472.1:n.*3506G>A
ENST00000699605.1:c.3256G>A	ENSP00000514473.1:p.Glu1086Lys
ENST00000685018.1:c.430G>A	ENSP00000510194.1:p.Glu144Lys
ENST00000687278.1:c.1469G>A	ENSP00000509593.1:n.1469G>A
ENST00000689011.1:c.264G>A
ENST00000003084.11:c.3682G>A MANE Select	ENSP00000003084.6:p.Glu1228Lys
ENST00000647720.1:c.1167+165G>A
ENST00000648260.1:c.2464G>A	ENSP00000497957.1:p.Glu822Lys
ENST00000649406.1:c.3499G>A	ENSP00000497965.1:p.Glu1167Lys
ENST00000649781.1:c.3499G>A	ENSP00000497203.1:p.Glu1167Lys
ENST00000003084.10:c.3682G>A	ENSP00000003084.6:p.Glu1228Lys
ENST00000426809.5:c.3592G>A	ENSP00000389119.1:p.Glu1198Lys
ENST00000468795.1:c.507G>A
NM_000492.3:c.3682G>A , LRG_663t1:c.3682G>A	NP_000483.3:p.Glu1228Lys
XM_011515751.1:c.3772G>A	XP_011514053.1:p.Glu1258Lys
XM_011515752.1:c.3772G>A	XP_011514054.1:p.Glu1258Lys
XM_011515753.1:c.3439G>A	XP_011514055.1:p.Glu1147Lys
XM_011515754.1:c.3439G>A	XP_011514056.1:p.Glu1147Lys
NM_000492.4:c.3682G>A MANE Select	NP_000483.3:p.Glu1228Lys