Canonical Allele Identifier: CA2684621695

Gene: CFTR

Linked Data

• gnomAD v4: 7-117668118-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117668118T>C , CM000669.2:g.117668118T>C	GRCh38
NC_000007.13:g.117308172T>C , CM000669.1:g.117308172T>C	GRCh37
NC_000007.12:g.117095408T>C	NCBI36
NG_016465.4:g.207335T>C , LRG_663:g.207335T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*1662T>C	ENSP00000497673.2:n.*1662T>C
ENST00000647978.2:c.*5167T>C	ENSP00000497658.1:n.*5167T>C
ENST00000649781.2:c.*1010T>C	ENSP00000497203.1:n.*1010T>C
ENST00000685018.2:c.*1666T>C	ENSP00000510194.2:n.*1666T>C
ENST00000687278.2:c.*1052-361T>C	ENSP00000509593.2:n.*1052-361T>C
ENST00000699585.1:c.*1922T>C	ENSP00000514456.1:n.*1922T>C
ENST00000699598.1:c.*455-361T>C	ENSP00000514467.1:n.*455-361T>C
ENST00000699599.1:c.*962-361T>C	ENSP00000514468.1:n.*962-361T>C
ENST00000699600.1:c.*1060-361T>C	ENSP00000514469.1:n.*1060-361T>C
ENST00000699601.1:c.*3828T>C	ENSP00000514470.1:n.*3828T>C
ENST00000699602.1:c.*1010T>C	ENSP00000514471.1:n.*1010T>C
ENST00000699604.1:c.*5277T>C	ENSP00000514472.1:n.*5277T>C
ENST00000699605.1:c.*1010T>C	ENSP00000514473.1:n.*1010T>C
ENST00000699606.1:n.4964T>C
ENST00000685018.1:c.2317T>C	ENSP00000510194.1:n.2317T>C
ENST00000687278.1:c.2186-361T>C	ENSP00000509593.1:n.2186-361T>C
ENST00000689011.1:c.2295T>C
ENST00000003084.11:c.*1010T>C MANE Select	ENSP00000003084.6:n.*1010T>C
ENST00000647720.1:c.2903T>C
ENST00000003084.10:c.*1010T>C	ENSP00000003084.6:n.*1010T>C
ENST00000600166.1:c.368+2554T>C
NM_000492.3:c.*1010T>C , LRG_663t1:c.*1010T>C	NP_000483.3:n.*1010T>C
XM_011515751.1:c.*1010T>C	XP_011514053.1:n.*1010T>C
XM_011515753.1:c.*1010T>C	XP_011514055.1:n.*1010T>C
XM_011515754.1:c.*1010T>C	XP_011514056.1:n.*1010T>C
NM_000492.4:c.*1010T>C MANE Select	NP_000483.3:n.*1010T>C