Canonical Allele Identifier: CA2603609007

Gene: CFTR

Linked Data

• dbSNP Id: rs2116228657
• gnomAD v3: 7-117668128-T-C
• gnomAD v4: 7-117668128-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117668128T>C , CM000669.2:g.117668128T>C	GRCh38
NC_000007.13:g.117308182T>C , CM000669.1:g.117308182T>C	GRCh37
NC_000007.12:g.117095418T>C	NCBI36
NG_016465.4:g.207345T>C , LRG_663:g.207345T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*1672T>C	ENSP00000497673.2:n.*1672T>C
ENST00000647978.2:c.*5177T>C	ENSP00000497658.1:n.*5177T>C
ENST00000649781.2:c.*1020T>C	ENSP00000497203.1:n.*1020T>C
ENST00000685018.2:c.*1676T>C	ENSP00000510194.2:n.*1676T>C
ENST00000687278.2:c.*1052-351T>C	ENSP00000509593.2:n.*1052-351T>C
ENST00000699585.1:c.*1932T>C	ENSP00000514456.1:n.*1932T>C
ENST00000699598.1:c.*455-351T>C	ENSP00000514467.1:n.*455-351T>C
ENST00000699599.1:c.*962-351T>C	ENSP00000514468.1:n.*962-351T>C
ENST00000699600.1:c.*1060-351T>C	ENSP00000514469.1:n.*1060-351T>C
ENST00000699601.1:c.*3838T>C	ENSP00000514470.1:n.*3838T>C
ENST00000699602.1:c.*1020T>C	ENSP00000514471.1:n.*1020T>C
ENST00000699604.1:c.*5287T>C	ENSP00000514472.1:n.*5287T>C
ENST00000699605.1:c.*1020T>C	ENSP00000514473.1:n.*1020T>C
ENST00000699606.1:n.4974T>C
ENST00000685018.1:c.2327T>C	ENSP00000510194.1:n.2327T>C
ENST00000687278.1:c.2186-351T>C	ENSP00000509593.1:n.2186-351T>C
ENST00000689011.1:c.2305T>C
ENST00000003084.11:c.*1020T>C MANE Select	ENSP00000003084.6:n.*1020T>C
ENST00000647720.1:c.2913T>C
ENST00000003084.10:c.*1020T>C	ENSP00000003084.6:n.*1020T>C
ENST00000600166.1:c.368+2564T>C
NM_000492.3:c.*1020T>C , LRG_663t1:c.*1020T>C	NP_000483.3:n.*1020T>C
XM_011515751.1:c.*1020T>C	XP_011514053.1:n.*1020T>C
XM_011515753.1:c.*1020T>C	XP_011514055.1:n.*1020T>C
XM_011515754.1:c.*1020T>C	XP_011514056.1:n.*1020T>C
NM_000492.4:c.*1020T>C MANE Select	NP_000483.3:n.*1020T>C