Canonical Allele Identifier: CA368983722

Gene: CFTR

Linked Data

• gnomAD v4: 7-117665535-G-A
• COSMIC: COSM3949807
• MyVariant Identifiers: chr7:g.117305589G>A (hg19) ; chr7:g.117665535G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665535G>A , CM000669.2:g.117665535G>A	GRCh38
NC_000007.13:g.117305589G>A , CM000669.1:g.117305589G>A	GRCh37
NC_000007.12:g.117092825G>A	NCBI36
NG_016465.4:g.204752G>A , LRG_663:g.204752G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*422G>A	ENSP00000497673.2:n.*422G>A
ENST00000647978.2:c.*3927G>A	ENSP00000497658.1:n.*3927G>A
ENST00000649781.2:c.4030G>A	ENSP00000497203.1:p.Glu1344Lys
ENST00000685018.2:c.*426G>A	ENSP00000510194.2:n.*426G>A
ENST00000687278.2:c.*866G>A	ENSP00000509593.2:n.*866G>A
ENST00000699585.1:c.*422G>A	ENSP00000514456.1:n.*422G>A
ENST00000699598.1:c.4213G>A	ENSP00000514467.1:p.Glu1405Lys
ENST00000699599.1:c.*426G>A	ENSP00000514468.1:n.*426G>A
ENST00000699600.1:c.*874G>A	ENSP00000514469.1:n.*874G>A
ENST00000699601.1:c.*2588G>A	ENSP00000514470.1:n.*2588G>A
ENST00000699602.1:c.4207G>A	ENSP00000514471.1:p.Glu1403Lys
ENST00000699604.1:c.*4037G>A	ENSP00000514472.1:n.*4037G>A
ENST00000699605.1:c.3787G>A	ENSP00000514473.1:p.Glu1263Lys
ENST00000699606.1:n.2381G>A
ENST00000685018.1:c.1077G>A	ENSP00000510194.1:n.1077G>A
ENST00000687278.1:c.2000G>A	ENSP00000509593.1:n.2000G>A
ENST00000689011.1:c.795G>A
ENST00000003084.11:c.4213G>A MANE Select	ENSP00000003084.6:p.Glu1405Lys
ENST00000647720.1:c.1663G>A
ENST00000649781.1:c.4030G>A	ENSP00000497203.1:p.Glu1344Lys
ENST00000003084.10:c.4213G>A	ENSP00000003084.6:p.Glu1405Lys
ENST00000426809.5:c.4123G>A	ENSP00000389119.1:p.Glu1375Lys
ENST00000600166.1:c.339G>A
NM_000492.3:c.4213G>A , LRG_663t1:c.4213G>A	NP_000483.3:p.Glu1405Lys
XM_011515751.1:c.4303G>A	XP_011514053.1:p.Glu1435Lys
XM_011515752.1:c.4303G>A	XP_011514054.1:p.Glu1435Lys
XM_011515753.1:c.3970G>A	XP_011514055.1:p.Glu1324Lys
XM_011515754.1:c.3970G>A	XP_011514056.1:p.Glu1324Lys
NM_000492.4:c.4213G>A MANE Select	NP_000483.3:p.Glu1405Lys