Canonical Allele Identifier: CA164948282

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1790608
• ClinVar RCV Id: RCV002450201
• dbSNP Id: rs984281283
• gnomAD v2: 7-117232616-C-A
• gnomAD v4: 7-117592562-C-A
• MyVariant Identifiers: chr7:g.117232616C>A (hg19) ; chr7:g.117592562C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592562C>A , CM000669.2:g.117592562C>A	GRCh38
NC_000007.13:g.117232616C>A , CM000669.1:g.117232616C>A	GRCh37
NC_000007.12:g.117019852C>A	NCBI36
NG_016465.4:g.131779C>A , LRG_663:g.131779C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2395C>A	ENSP00000497673.2:p.Gln799Lys
ENST00000647978.2:c.*2109C>A	ENSP00000497658.1:n.*2109C>A
ENST00000649781.2:c.2212C>A	ENSP00000497203.1:p.Gln738Lys
ENST00000685018.2:c.2395C>A	ENSP00000510194.2:p.Gln799Lys
ENST00000687278.2:c.2395C>A	ENSP00000509593.2:p.Gln799Lys
ENST00000699585.1:c.2395C>A	ENSP00000514456.1:p.Gln799Lys
ENST00000699598.1:c.2395C>A	ENSP00000514467.1:p.Gln799Lys
ENST00000699599.1:c.2395C>A	ENSP00000514468.1:p.Gln799Lys
ENST00000699600.1:c.2395C>A	ENSP00000514469.1:p.Gln799Lys
ENST00000699601.1:c.*695C>A	ENSP00000514470.1:n.*695C>A
ENST00000699602.1:c.2395C>A	ENSP00000514471.1:p.Gln799Lys
ENST00000699604.1:c.*2219C>A	ENSP00000514472.1:n.*2219C>A
ENST00000699605.1:c.1969C>A	ENSP00000514473.1:p.Gln657Lys
ENST00000003084.11:c.2395C>A MANE Select	ENSP00000003084.6:p.Gln799Lys
ENST00000647720.1:c.45C>A
ENST00000647978.1:c.*2109C>A	ENSP00000497658.1:n.*2109C>A
ENST00000648260.1:c.1402-10264C>A	ENSP00000497957.1:n.1402-10264C>A
ENST00000649406.1:c.2212C>A	ENSP00000497965.1:p.Gln738Lys
ENST00000649781.1:c.2212C>A	ENSP00000497203.1:p.Gln738Lys
ENST00000003084.10:c.2395C>A	ENSP00000003084.6:p.Gln799Lys
ENST00000426809.5:c.2305C>A	ENSP00000389119.1:p.Gln769Lys
NM_000492.3:c.2395C>A , LRG_663t1:c.2395C>A	NP_000483.3:p.Gln799Lys
XM_011515751.1:c.2485C>A	XP_011514053.1:p.Gln829Lys
XM_011515752.1:c.2485C>A	XP_011514054.1:p.Gln829Lys
XM_011515753.1:c.2152C>A	XP_011514055.1:p.Gln718Lys
XM_011515754.1:c.2152C>A	XP_011514056.1:p.Gln718Lys
NM_000492.4:c.2395C>A MANE Select	NP_000483.3:p.Gln799Lys