Canonical Allele Identifier: CA1737408489

Gene: CFTR

Linked Data

• dbSNP Id: rs1793416813

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117668143T>G , CM000669.2:g.117668143T>G	GRCh38
NC_000007.13:g.117308197T>G , CM000669.1:g.117308197T>G	GRCh37
NC_000007.12:g.117095433T>G	NCBI36
NG_016465.4:g.207360T>G , LRG_663:g.207360T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*1687T>G	ENSP00000497673.2:n.*1687T>G
ENST00000647978.2:c.*5192T>G	ENSP00000497658.1:n.*5192T>G
ENST00000649781.2:c.*1035T>G	ENSP00000497203.1:n.*1035T>G
ENST00000685018.2:c.*1691T>G	ENSP00000510194.2:n.*1691T>G
ENST00000687278.2:c.*1052-336T>G	ENSP00000509593.2:n.*1052-336T>G
ENST00000699585.1:c.*1947T>G	ENSP00000514456.1:n.*1947T>G
ENST00000699598.1:c.*455-336T>G	ENSP00000514467.1:n.*455-336T>G
ENST00000699599.1:c.*962-336T>G	ENSP00000514468.1:n.*962-336T>G
ENST00000699600.1:c.*1060-336T>G	ENSP00000514469.1:n.*1060-336T>G
ENST00000699601.1:c.*3853T>G	ENSP00000514470.1:n.*3853T>G
ENST00000699602.1:c.*1035T>G	ENSP00000514471.1:n.*1035T>G
ENST00000699604.1:c.*5302T>G	ENSP00000514472.1:n.*5302T>G
ENST00000699605.1:c.*1035T>G	ENSP00000514473.1:n.*1035T>G
ENST00000699606.1:n.4989T>G
ENST00000685018.1:c.2342T>G	ENSP00000510194.1:n.2342T>G
ENST00000687278.1:c.2186-336T>G	ENSP00000509593.1:n.2186-336T>G
ENST00000689011.1:c.2320T>G
ENST00000003084.11:c.*1035T>G MANE Select	ENSP00000003084.6:n.*1035T>G
ENST00000647720.1:c.2928T>G
ENST00000003084.10:c.*1035T>G	ENSP00000003084.6:n.*1035T>G
ENST00000600166.1:c.368+2579T>G
NM_000492.3:c.*1035T>G , LRG_663t1:c.*1035T>G	NP_000483.3:n.*1035T>G
XM_011515751.1:c.*1035T>G	XP_011514053.1:n.*1035T>G
XM_011515753.1:c.*1035T>G	XP_011514055.1:n.*1035T>G
XM_011515754.1:c.*1035T>G	XP_011514056.1:n.*1035T>G
NM_000492.4:c.*1035T>G MANE Select	NP_000483.3:n.*1035T>G