Canonical Allele Identifier: CA1106321406

Gene: CFTR

Linked Data

• dbSNP Id: rs1793411561
• gnomAD v3: 7-117667956-T-G
• gnomAD v4: 7-117667956-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667956T>G , CM000669.2:g.117667956T>G	GRCh38
NC_000007.13:g.117308010T>G , CM000669.1:g.117308010T>G	GRCh37
NC_000007.12:g.117095246T>G	NCBI36
NG_016465.4:g.207173T>G , LRG_663:g.207173T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*1500T>G	ENSP00000497673.2:n.*1500T>G
ENST00000647978.2:c.*5005T>G	ENSP00000497658.1:n.*5005T>G
ENST00000649781.2:c.*848T>G	ENSP00000497203.1:n.*848T>G
ENST00000685018.2:c.*1504T>G	ENSP00000510194.2:n.*1504T>G
ENST00000687278.2:c.*1051+199T>G	ENSP00000509593.2:n.*1051+199T>G
ENST00000699585.1:c.*1760T>G	ENSP00000514456.1:n.*1760T>G
ENST00000699598.1:c.*454+199T>G	ENSP00000514467.1:n.*454+199T>G
ENST00000699599.1:c.*961+199T>G	ENSP00000514468.1:n.*961+199T>G
ENST00000699600.1:c.*1059+199T>G	ENSP00000514469.1:n.*1059+199T>G
ENST00000699601.1:c.*3666T>G	ENSP00000514470.1:n.*3666T>G
ENST00000699602.1:c.*848T>G	ENSP00000514471.1:n.*848T>G
ENST00000699604.1:c.*5115T>G	ENSP00000514472.1:n.*5115T>G
ENST00000699605.1:c.*848T>G	ENSP00000514473.1:n.*848T>G
ENST00000699606.1:n.4802T>G
ENST00000685018.1:c.2155T>G	ENSP00000510194.1:n.2155T>G
ENST00000687278.1:c.2185+199T>G	ENSP00000509593.1:n.2185+199T>G
ENST00000689011.1:c.2133T>G
ENST00000003084.11:c.*848T>G MANE Select	ENSP00000003084.6:n.*848T>G
ENST00000647720.1:c.2741T>G
ENST00000003084.10:c.*848T>G	ENSP00000003084.6:n.*848T>G
ENST00000600166.1:c.368+2392T>G
NM_000492.3:c.*848T>G , LRG_663t1:c.*848T>G	NP_000483.3:n.*848T>G
XM_011515751.1:c.*848T>G	XP_011514053.1:n.*848T>G
XM_011515753.1:c.*848T>G	XP_011514055.1:n.*848T>G
XM_011515754.1:c.*848T>G	XP_011514056.1:n.*848T>G
NM_000492.4:c.*848T>G MANE Select	NP_000483.3:n.*848T>G