Canonical Allele Identifier: CA2580076396

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2035092
• ClinVar RCV Id: RCV002877338
• gnomAD v4: 7-117614599-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614599T>C , CM000669.2:g.117614599T>C	GRCh38
NC_000007.13:g.117254653T>C , CM000669.1:g.117254653T>C	GRCh37
NC_000007.12:g.117041889T>C	NCBI36
NG_016465.4:g.153816T>C , LRG_663:g.153816T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3368-14T>C	ENSP00000497673.2:n.3368-14T>C
ENST00000647978.2:c.*3082-14T>C	ENSP00000497658.1:n.*3082-14T>C
ENST00000649781.2:c.3185-14T>C	ENSP00000497203.1:n.3185-14T>C
ENST00000685018.2:c.3368-14T>C	ENSP00000510194.2:n.3368-14T>C
ENST00000687278.2:c.3368-14T>C	ENSP00000509593.2:n.3368-14T>C
ENST00000699585.1:c.3368-14T>C	ENSP00000514456.1:n.3368-14T>C
ENST00000699598.1:c.3368-14T>C	ENSP00000514467.1:n.3368-14T>C
ENST00000699599.1:c.3368-14T>C	ENSP00000514468.1:n.3368-14T>C
ENST00000699600.1:c.3368-14T>C	ENSP00000514469.1:n.3368-14T>C
ENST00000699601.1:c.*1729T>C	ENSP00000514470.1:n.*1729T>C
ENST00000699602.1:c.3368-20T>C	ENSP00000514471.1:n.3368-20T>C
ENST00000699604.1:c.*3192-14T>C	ENSP00000514472.1:n.*3192-14T>C
ENST00000699605.1:c.2942-14T>C	ENSP00000514473.1:n.2942-14T>C
ENST00000685018.1:c.116-14T>C	ENSP00000510194.1:n.116-14T>C
ENST00000687278.1:c.959-14T>C	ENSP00000509593.1:n.959-14T>C
ENST00000003084.11:c.3368-14T>C MANE Select	ENSP00000003084.6:n.3368-14T>C
ENST00000647720.1:c.1018-14T>C
ENST00000648260.1:c.2150-14T>C	ENSP00000497957.1:n.2150-14T>C
ENST00000649406.1:c.3185-14T>C	ENSP00000497965.1:n.3185-14T>C
ENST00000649781.1:c.3185-14T>C	ENSP00000497203.1:n.3185-14T>C
ENST00000003084.10:c.3368-14T>C	ENSP00000003084.6:n.3368-14T>C
ENST00000426809.5:c.3278-14T>C	ENSP00000389119.1:n.3278-14T>C
ENST00000468795.1:c.193-14T>C
NM_000492.3:c.3368-14T>C , LRG_663t1:c.3368-14T>C	NP_000483.3:n.3368-14T>C
XM_011515751.1:c.3458-14T>C	XP_011514053.1:n.3458-14T>C
XM_011515752.1:c.3458-14T>C	XP_011514054.1:n.3458-14T>C
XM_011515753.1:c.3125-14T>C	XP_011514055.1:n.3125-14T>C
XM_011515754.1:c.3125-14T>C	XP_011514056.1:n.3125-14T>C
NM_000492.4:c.3368-14T>C MANE Select	NP_000483.3:n.3368-14T>C