Canonical Allele Identifier: CA2579000478

Gene: CFTR

Linked Data

• gnomAD v4: 7-117667135-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667135C>A , CM000669.2:g.117667135C>A	GRCh38
NC_000007.13:g.117307189C>A , CM000669.1:g.117307189C>A	GRCh37
NC_000007.12:g.117094425C>A	NCBI36
NG_016465.4:g.206352C>A , LRG_663:g.206352C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*679C>A	ENSP00000497673.2:n.*679C>A
ENST00000647978.2:c.*4184C>A	ENSP00000497658.1:n.*4184C>A
ENST00000649781.2:c.*27C>A	ENSP00000497203.1:n.*27C>A
ENST00000685018.2:c.*683C>A	ENSP00000510194.2:n.*683C>A
ENST00000687278.2:c.*896-467C>A	ENSP00000509593.2:n.*896-467C>A
ENST00000699585.1:c.*939C>A	ENSP00000514456.1:n.*939C>A
ENST00000699598.1:c.*176C>A	ENSP00000514467.1:n.*176C>A
ENST00000699599.1:c.*683C>A	ENSP00000514468.1:n.*683C>A
ENST00000699600.1:c.*904-467C>A	ENSP00000514469.1:n.*904-467C>A
ENST00000699601.1:c.*2845C>A	ENSP00000514470.1:n.*2845C>A
ENST00000699602.1:c.*27C>A	ENSP00000514471.1:n.*27C>A
ENST00000699604.1:c.*4294C>A	ENSP00000514472.1:n.*4294C>A
ENST00000699605.1:c.*27C>A	ENSP00000514473.1:n.*27C>A
ENST00000699606.1:n.3981C>A
ENST00000685018.1:c.1334C>A	ENSP00000510194.1:n.1334C>A
ENST00000687278.1:c.2030-467C>A	ENSP00000509593.1:n.2030-467C>A
ENST00000689011.1:c.1312C>A
ENST00000003084.11:c.*27C>A MANE Select	ENSP00000003084.6:n.*27C>A
ENST00000647720.1:c.1920C>A
ENST00000003084.10:c.*27C>A	ENSP00000003084.6:n.*27C>A
ENST00000600166.1:c.368+1571C>A
NM_000492.3:c.*27C>A , LRG_663t1:c.*27C>A	NP_000483.3:n.*27C>A
XM_011515751.1:c.*27C>A	XP_011514053.1:n.*27C>A
XM_011515753.1:c.*27C>A	XP_011514055.1:n.*27C>A
XM_011515754.1:c.*27C>A	XP_011514056.1:n.*27C>A
NM_000492.4:c.*27C>A MANE Select	NP_000483.3:n.*27C>A