Canonical Allele Identifier: CA577227568

Gene: CFTR

Linked Data

• dbSNP Id: rs1178960638
• gnomAD v2: 7-117306793-A-G
• gnomAD v3: 7-117666739-A-G
• gnomAD v4: 7-117666739-A-G
• MyVariant Identifiers: chr7:g.117306793A>G (hg19) ; chr7:g.117666739A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666739A>G , CM000669.2:g.117666739A>G	GRCh38
NC_000007.13:g.117306793A>G , CM000669.1:g.117306793A>G	GRCh37
NC_000007.12:g.117094029A>G	NCBI36
NG_016465.4:g.205956A>G , LRG_663:g.205956A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*452-169A>G	ENSP00000497673.2:n.*452-169A>G
ENST00000647978.2:c.*3957-169A>G	ENSP00000497658.1:n.*3957-169A>G
ENST00000649781.2:c.4060-169A>G	ENSP00000497203.1:n.4060-169A>G
ENST00000685018.2:c.*456-169A>G	ENSP00000510194.2:n.*456-169A>G
ENST00000687278.2:c.*896-863A>G	ENSP00000509593.2:n.*896-863A>G
ENST00000699585.1:c.*543A>G	ENSP00000514456.1:n.*543A>G
ENST00000699598.1:c.4243-176A>G	ENSP00000514467.1:n.4243-176A>G
ENST00000699599.1:c.*456-169A>G	ENSP00000514468.1:n.*456-169A>G
ENST00000699600.1:c.*904-863A>G	ENSP00000514469.1:n.*904-863A>G
ENST00000699601.1:c.*2618-169A>G	ENSP00000514470.1:n.*2618-169A>G
ENST00000699602.1:c.4237-169A>G	ENSP00000514471.1:n.4237-169A>G
ENST00000699604.1:c.*4067-169A>G	ENSP00000514472.1:n.*4067-169A>G
ENST00000699605.1:c.3817-169A>G	ENSP00000514473.1:n.3817-169A>G
ENST00000699606.1:n.3585A>G
ENST00000685018.1:c.1107-169A>G	ENSP00000510194.1:n.1107-169A>G
ENST00000687278.1:c.2030-863A>G	ENSP00000509593.1:n.2030-863A>G
ENST00000689011.1:c.916A>G
ENST00000003084.11:c.4243-169A>G MANE Select	ENSP00000003084.6:n.4243-169A>G
ENST00000647720.1:c.1693-169A>G
ENST00000649781.1:c.4060-169A>G	ENSP00000497203.1:n.4060-169A>G
ENST00000003084.10:c.4243-169A>G	ENSP00000003084.6:n.4243-169A>G
ENST00000426809.5:c.4153-169A>G	ENSP00000389119.1:n.4153-169A>G
ENST00000600166.1:c.368+1175A>G
NM_000492.3:c.4243-169A>G , LRG_663t1:c.4243-169A>G	NP_000483.3:n.4243-169A>G
XM_011515751.1:c.4333-169A>G	XP_011514053.1:n.4333-169A>G
XM_011515752.1:c.*74A>G	XP_011514054.1:n.*74A>G
XM_011515753.1:c.4000-169A>G	XP_011514055.1:n.4000-169A>G
XM_011515754.1:c.4000-169A>G	XP_011514056.1:n.4000-169A>G
NM_000492.4:c.4243-169A>G MANE Select	NP_000483.3:n.4243-169A>G