Canonical Allele Identifier: CA2684621679

Gene: CFTR

Linked Data

• gnomAD v4: 7-117668061-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117668061C>A , CM000669.2:g.117668061C>A	GRCh38
NC_000007.13:g.117308115C>A , CM000669.1:g.117308115C>A	GRCh37
NC_000007.12:g.117095351C>A	NCBI36
NG_016465.4:g.207278C>A , LRG_663:g.207278C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*1605C>A	ENSP00000497673.2:n.*1605C>A
ENST00000647978.2:c.*5110C>A	ENSP00000497658.1:n.*5110C>A
ENST00000649781.2:c.*953C>A	ENSP00000497203.1:n.*953C>A
ENST00000685018.2:c.*1609C>A	ENSP00000510194.2:n.*1609C>A
ENST00000687278.2:c.*1051+304C>A	ENSP00000509593.2:n.*1051+304C>A
ENST00000699585.1:c.*1865C>A	ENSP00000514456.1:n.*1865C>A
ENST00000699598.1:c.*454+304C>A	ENSP00000514467.1:n.*454+304C>A
ENST00000699599.1:c.*961+304C>A	ENSP00000514468.1:n.*961+304C>A
ENST00000699600.1:c.*1059+304C>A	ENSP00000514469.1:n.*1059+304C>A
ENST00000699601.1:c.*3771C>A	ENSP00000514470.1:n.*3771C>A
ENST00000699602.1:c.*953C>A	ENSP00000514471.1:n.*953C>A
ENST00000699604.1:c.*5220C>A	ENSP00000514472.1:n.*5220C>A
ENST00000699605.1:c.*953C>A	ENSP00000514473.1:n.*953C>A
ENST00000699606.1:n.4907C>A
ENST00000685018.1:c.2260C>A	ENSP00000510194.1:n.2260C>A
ENST00000687278.1:c.2185+304C>A	ENSP00000509593.1:n.2185+304C>A
ENST00000689011.1:c.2238C>A
ENST00000003084.11:c.*953C>A MANE Select	ENSP00000003084.6:n.*953C>A
ENST00000647720.1:c.2846C>A
ENST00000003084.10:c.*953C>A	ENSP00000003084.6:n.*953C>A
ENST00000600166.1:c.368+2497C>A
NM_000492.3:c.*953C>A , LRG_663t1:c.*953C>A	NP_000483.3:n.*953C>A
XM_011515751.1:c.*953C>A	XP_011514053.1:n.*953C>A
XM_011515753.1:c.*953C>A	XP_011514055.1:n.*953C>A
XM_011515754.1:c.*953C>A	XP_011514056.1:n.*953C>A
NM_000492.4:c.*953C>A MANE Select	NP_000483.3:n.*953C>A