Canonical Allele Identifier: CA1737408494

Gene: CFTR

Linked Data

• dbSNP Id: rs1584850805

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117668148G>A , CM000669.2:g.117668148G>A	GRCh38
NC_000007.13:g.117308202G>A , CM000669.1:g.117308202G>A	GRCh37
NC_000007.12:g.117095438G>A	NCBI36
NG_016465.4:g.207365G>A , LRG_663:g.207365G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*1692G>A	ENSP00000497673.2:n.*1692G>A
ENST00000647978.2:c.*5197G>A	ENSP00000497658.1:n.*5197G>A
ENST00000649781.2:c.*1040G>A	ENSP00000497203.1:n.*1040G>A
ENST00000685018.2:c.*1696G>A	ENSP00000510194.2:n.*1696G>A
ENST00000687278.2:c.*1052-331G>A	ENSP00000509593.2:n.*1052-331G>A
ENST00000699585.1:c.*1952G>A	ENSP00000514456.1:n.*1952G>A
ENST00000699598.1:c.*455-331G>A	ENSP00000514467.1:n.*455-331G>A
ENST00000699599.1:c.*962-331G>A	ENSP00000514468.1:n.*962-331G>A
ENST00000699600.1:c.*1060-331G>A	ENSP00000514469.1:n.*1060-331G>A
ENST00000699601.1:c.*3858G>A	ENSP00000514470.1:n.*3858G>A
ENST00000699602.1:c.*1040G>A	ENSP00000514471.1:n.*1040G>A
ENST00000699604.1:c.*5307G>A	ENSP00000514472.1:n.*5307G>A
ENST00000699605.1:c.*1040G>A	ENSP00000514473.1:n.*1040G>A
ENST00000699606.1:n.4994G>A
ENST00000685018.1:c.2347G>A	ENSP00000510194.1:n.2347G>A
ENST00000687278.1:c.2186-331G>A	ENSP00000509593.1:n.2186-331G>A
ENST00000689011.1:c.2325G>A
ENST00000003084.11:c.*1040G>A MANE Select	ENSP00000003084.6:n.*1040G>A
ENST00000647720.1:c.2933G>A
ENST00000003084.10:c.*1040G>A	ENSP00000003084.6:n.*1040G>A
ENST00000600166.1:c.368+2584G>A
NM_000492.3:c.*1040G>A , LRG_663t1:c.*1040G>A	NP_000483.3:n.*1040G>A
XM_011515751.1:c.*1040G>A	XP_011514053.1:n.*1040G>A
XM_011515753.1:c.*1040G>A	XP_011514055.1:n.*1040G>A
XM_011515754.1:c.*1040G>A	XP_011514056.1:n.*1040G>A
NM_000492.4:c.*1040G>A MANE Select	NP_000483.3:n.*1040G>A