Canonical Allele Identifier: CA1106320310

Gene: CFTR

Linked Data

• dbSNP Id: rs1793344287
• gnomAD v3: 7-117664804-T-TAA
• gnomAD v4: 7-117664804-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664804_117664805insAA , CM000669.2:g.117664804_117664805insAA	GRCh38
NC_000007.13:g.117304858_117304859insAA , CM000669.1:g.117304858_117304859insAA	GRCh37
NC_000007.12:g.117092094_117092095insAA	NCBI36
NG_016465.4:g.204021_204022insAA , LRG_663:g.204021_204022insAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*289_*290insAA	ENSP00000497673.2:n.*289_*290insAA
ENST00000647978.2:c.*3794_*3795insAA	ENSP00000497658.1:n.*3794_*3795insAA
ENST00000649781.2:c.3897_3898insAA	ENSP00000497203.1:p.Leu1300AsnfsTer20
ENST00000685018.2:c.*293_*294insAA	ENSP00000510194.2:n.*293_*294insAA
ENST00000687278.2:c.*733_*734insAA	ENSP00000509593.2:n.*733_*734insAA
ENST00000699585.1:c.*289_*290insAA	ENSP00000514456.1:n.*289_*290insAA
ENST00000699598.1:c.4080_4081insAA	ENSP00000514467.1:p.Leu1361AsnfsTer20
ENST00000699599.1:c.*293_*294insAA	ENSP00000514468.1:n.*293_*294insAA
ENST00000699600.1:c.*741_*742insAA	ENSP00000514469.1:n.*741_*742insAA
ENST00000699601.1:c.*2455_*2456insAA	ENSP00000514470.1:n.*2455_*2456insAA
ENST00000699602.1:c.4074_4075insAA	ENSP00000514471.1:p.Leu1359AsnfsTer20
ENST00000699604.1:c.*3904_*3905insAA	ENSP00000514472.1:n.*3904_*3905insAA
ENST00000699605.1:c.3654_3655insAA	ENSP00000514473.1:p.Leu1219AsnfsTer20
ENST00000699606.1:n.2248_2249insAA
ENST00000685018.1:c.944_945insAA	ENSP00000510194.1:n.944_945insAA
ENST00000687278.1:c.1867_1868insAA	ENSP00000509593.1:n.1867_1868insAA
ENST00000689011.1:c.662_663insAA
ENST00000003084.11:c.4080_4081insAA MANE Select	ENSP00000003084.6:p.Leu1361AsnfsTer20
ENST00000647720.1:c.1530_1531insAA
ENST00000649781.1:c.3897_3898insAA	ENSP00000497203.1:p.Leu1300AsnfsTer20
ENST00000003084.10:c.4080_4081insAA	ENSP00000003084.6:p.Leu1361AsnfsTer20
ENST00000426809.5:c.3990_3991insAA	ENSP00000389119.1:p.Leu1331AsnfsTer20
ENST00000600166.1:c.206_207insAA
NM_000492.3:c.4080_4081insAA , LRG_663t1:c.4080_4081insAA	NP_000483.3:p.Leu1361AsnfsTer20
XM_011515751.1:c.4170_4171insAA	XP_011514053.1:p.Leu1391AsnfsTer20
XM_011515752.1:c.4170_4171insAA	XP_011514054.1:p.Leu1391AsnfsTer20
XM_011515753.1:c.3837_3838insAA	XP_011514055.1:p.Leu1280AsnfsTer20
XM_011515754.1:c.3837_3838insAA	XP_011514056.1:p.Leu1280AsnfsTer20
NM_000492.4:c.4080_4081insAA MANE Select	NP_000483.3:p.Leu1361AsnfsTer20