Canonical Allele Identifier: CA368996276

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1732379
• ClinVar RCV Id: RCV002337572
• MyVariant Identifiers: chr7:g.117267639T>A (hg19) ; chr7:g.117627585T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627585T>A , CM000669.2:g.117627585T>A	GRCh38
NC_000007.13:g.117267639T>A , CM000669.1:g.117267639T>A	GRCh37
NC_000007.12:g.117054875T>A	NCBI36
NG_016465.4:g.166802T>A , LRG_663:g.166802T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+15T>A	ENSP00000497673.2:n.3517+15T>A
ENST00000647978.2:c.*3246T>A	ENSP00000497658.1:n.*3246T>A
ENST00000649781.2:c.3349T>A	ENSP00000497203.1:p.Ser1117Thr
ENST00000685018.2:c.3532T>A	ENSP00000510194.2:p.Ser1178Thr
ENST00000687278.2:c.*185T>A	ENSP00000509593.2:n.*185T>A
ENST00000699585.1:c.3517+15T>A	ENSP00000514456.1:n.3517+15T>A
ENST00000699598.1:c.3532T>A	ENSP00000514467.1:p.Ser1178Thr
ENST00000699599.1:c.3532T>A	ENSP00000514468.1:p.Ser1178Thr
ENST00000699600.1:c.*193T>A	ENSP00000514469.1:n.*193T>A
ENST00000699601.1:c.*1907T>A	ENSP00000514470.1:n.*1907T>A
ENST00000699602.1:c.3526T>A	ENSP00000514471.1:p.Ser1176Thr
ENST00000699604.1:c.*3356T>A	ENSP00000514472.1:n.*3356T>A
ENST00000699605.1:c.3106T>A	ENSP00000514473.1:p.Ser1036Thr
ENST00000685018.1:c.280T>A	ENSP00000510194.1:p.Ser94Thr
ENST00000687278.1:c.1319T>A	ENSP00000509593.1:n.1319T>A
ENST00000689011.1:c.114T>A
ENST00000003084.11:c.3532T>A MANE Select	ENSP00000003084.6:p.Ser1178Thr
ENST00000647720.1:c.1167+15T>A
ENST00000648260.1:c.2314T>A	ENSP00000497957.1:p.Ser772Thr
ENST00000649406.1:c.3349T>A	ENSP00000497965.1:p.Ser1117Thr
ENST00000649781.1:c.3349T>A	ENSP00000497203.1:p.Ser1117Thr
ENST00000003084.10:c.3532T>A	ENSP00000003084.6:p.Ser1178Thr
ENST00000426809.5:c.3442T>A	ENSP00000389119.1:p.Ser1148Thr
ENST00000468795.1:c.357T>A
NM_000492.3:c.3532T>A , LRG_663t1:c.3532T>A	NP_000483.3:p.Ser1178Thr
XM_011515751.1:c.3622T>A	XP_011514053.1:p.Ser1208Thr
XM_011515752.1:c.3622T>A	XP_011514054.1:p.Ser1208Thr
XM_011515753.1:c.3289T>A	XP_011514055.1:p.Ser1097Thr
XM_011515754.1:c.3289T>A	XP_011514056.1:p.Ser1097Thr
NM_000492.4:c.3532T>A MANE Select	NP_000483.3:p.Ser1178Thr