Canonical Allele Identifier: CA368996479

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2447408
• ClinVar RCV Id: RCV003176429
• gnomAD v4: 7-117627631-T-C
• MyVariant Identifiers: chr7:g.117267685T>C (hg19) ; chr7:g.117627631T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627631T>C , CM000669.2:g.117627631T>C	GRCh38
NC_000007.13:g.117267685T>C , CM000669.1:g.117267685T>C	GRCh37
NC_000007.12:g.117054921T>C	NCBI36
NG_016465.4:g.166848T>C , LRG_663:g.166848T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+61T>C	ENSP00000497673.2:n.3517+61T>C
ENST00000647978.2:c.*3292T>C	ENSP00000497658.1:n.*3292T>C
ENST00000649781.2:c.3395T>C	ENSP00000497203.1:p.Ile1132Thr
ENST00000685018.2:c.3578T>C	ENSP00000510194.2:p.Ile1193Thr
ENST00000687278.2:c.*231T>C	ENSP00000509593.2:n.*231T>C
ENST00000699585.1:c.3517+61T>C	ENSP00000514456.1:n.3517+61T>C
ENST00000699598.1:c.3578T>C	ENSP00000514467.1:p.Ile1193Thr
ENST00000699599.1:c.3578T>C	ENSP00000514468.1:p.Ile1193Thr
ENST00000699600.1:c.*239T>C	ENSP00000514469.1:n.*239T>C
ENST00000699601.1:c.*1953T>C	ENSP00000514470.1:n.*1953T>C
ENST00000699602.1:c.3572T>C	ENSP00000514471.1:p.Ile1191Thr
ENST00000699604.1:c.*3402T>C	ENSP00000514472.1:n.*3402T>C
ENST00000699605.1:c.3152T>C	ENSP00000514473.1:p.Ile1051Thr
ENST00000685018.1:c.326T>C	ENSP00000510194.1:p.Ile109Thr
ENST00000687278.1:c.1365T>C	ENSP00000509593.1:n.1365T>C
ENST00000689011.1:c.160T>C
ENST00000003084.11:c.3578T>C MANE Select	ENSP00000003084.6:p.Ile1193Thr
ENST00000647720.1:c.1167+61T>C
ENST00000648260.1:c.2360T>C	ENSP00000497957.1:p.Ile787Thr
ENST00000649406.1:c.3395T>C	ENSP00000497965.1:p.Ile1132Thr
ENST00000649781.1:c.3395T>C	ENSP00000497203.1:p.Ile1132Thr
ENST00000003084.10:c.3578T>C	ENSP00000003084.6:p.Ile1193Thr
ENST00000426809.5:c.3488T>C	ENSP00000389119.1:p.Ile1163Thr
ENST00000468795.1:c.403T>C
NM_000492.3:c.3578T>C , LRG_663t1:c.3578T>C	NP_000483.3:p.Ile1193Thr
XM_011515751.1:c.3668T>C	XP_011514053.1:p.Ile1223Thr
XM_011515752.1:c.3668T>C	XP_011514054.1:p.Ile1223Thr
XM_011515753.1:c.3335T>C	XP_011514055.1:p.Ile1112Thr
XM_011515754.1:c.3335T>C	XP_011514056.1:p.Ile1112Thr
NM_000492.4:c.3578T>C MANE Select	NP_000483.3:p.Ile1193Thr