Canonical Allele Identifier: CA2684621683

Gene: CFTR

Linked Data

• gnomAD v4: 7-117668075-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117668075T>C , CM000669.2:g.117668075T>C	GRCh38
NC_000007.13:g.117308129T>C , CM000669.1:g.117308129T>C	GRCh37
NC_000007.12:g.117095365T>C	NCBI36
NG_016465.4:g.207292T>C , LRG_663:g.207292T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*1619T>C	ENSP00000497673.2:n.*1619T>C
ENST00000647978.2:c.*5124T>C	ENSP00000497658.1:n.*5124T>C
ENST00000649781.2:c.*967T>C	ENSP00000497203.1:n.*967T>C
ENST00000685018.2:c.*1623T>C	ENSP00000510194.2:n.*1623T>C
ENST00000687278.2:c.*1051+318T>C	ENSP00000509593.2:n.*1051+318T>C
ENST00000699585.1:c.*1879T>C	ENSP00000514456.1:n.*1879T>C
ENST00000699598.1:c.*454+318T>C	ENSP00000514467.1:n.*454+318T>C
ENST00000699599.1:c.*961+318T>C	ENSP00000514468.1:n.*961+318T>C
ENST00000699600.1:c.*1059+318T>C	ENSP00000514469.1:n.*1059+318T>C
ENST00000699601.1:c.*3785T>C	ENSP00000514470.1:n.*3785T>C
ENST00000699602.1:c.*967T>C	ENSP00000514471.1:n.*967T>C
ENST00000699604.1:c.*5234T>C	ENSP00000514472.1:n.*5234T>C
ENST00000699605.1:c.*967T>C	ENSP00000514473.1:n.*967T>C
ENST00000699606.1:n.4921T>C
ENST00000685018.1:c.2274T>C	ENSP00000510194.1:n.2274T>C
ENST00000687278.1:c.2185+318T>C	ENSP00000509593.1:n.2185+318T>C
ENST00000689011.1:c.2252T>C
ENST00000003084.11:c.*967T>C MANE Select	ENSP00000003084.6:n.*967T>C
ENST00000647720.1:c.2860T>C
ENST00000003084.10:c.*967T>C	ENSP00000003084.6:n.*967T>C
ENST00000600166.1:c.368+2511T>C
NM_000492.3:c.*967T>C , LRG_663t1:c.*967T>C	NP_000483.3:n.*967T>C
XM_011515751.1:c.*967T>C	XP_011514053.1:n.*967T>C
XM_011515753.1:c.*967T>C	XP_011514055.1:n.*967T>C
XM_011515754.1:c.*967T>C	XP_011514056.1:n.*967T>C
NM_000492.4:c.*967T>C MANE Select	NP_000483.3:n.*967T>C