Canonical Allele Identifier: CA16612022

Gene: CFTR

Linked Data

• ClinVar Variation Id: 411127
• ClinVar RCV Id: RCV000466860 ; RCV001828483
• dbSNP Id: rs1060503166
• gnomAD v2: 7-117304865-A-C
• gnomAD v3: 7-117664811-A-C
• gnomAD v4: 7-117664811-A-C
• MyVariant Identifiers: chr7:g.117304865A>C (hg19) ; chr7:g.117664811A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664811A>C , CM000669.2:g.117664811A>C	GRCh38
NC_000007.13:g.117304865A>C , CM000669.1:g.117304865A>C	GRCh37
NC_000007.12:g.117092101A>C	NCBI36
NG_016465.4:g.204028A>C , LRG_663:g.204028A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*296A>C	ENSP00000497673.2:n.*296A>C
ENST00000647978.2:c.*3801A>C	ENSP00000497658.1:n.*3801A>C
ENST00000649781.2:c.3904A>C	ENSP00000497203.1:p.Lys1302Gln
ENST00000685018.2:c.*300A>C	ENSP00000510194.2:n.*300A>C
ENST00000687278.2:c.*740A>C	ENSP00000509593.2:n.*740A>C
ENST00000699585.1:c.*296A>C	ENSP00000514456.1:n.*296A>C
ENST00000699598.1:c.4087A>C	ENSP00000514467.1:p.Lys1363Gln
ENST00000699599.1:c.*300A>C	ENSP00000514468.1:n.*300A>C
ENST00000699600.1:c.*748A>C	ENSP00000514469.1:n.*748A>C
ENST00000699601.1:c.*2462A>C	ENSP00000514470.1:n.*2462A>C
ENST00000699602.1:c.4081A>C	ENSP00000514471.1:p.Lys1361Gln
ENST00000699604.1:c.*3911A>C	ENSP00000514472.1:n.*3911A>C
ENST00000699605.1:c.3661A>C	ENSP00000514473.1:p.Lys1221Gln
ENST00000699606.1:n.2255A>C
ENST00000685018.1:c.951A>C	ENSP00000510194.1:n.951A>C
ENST00000687278.1:c.1874A>C	ENSP00000509593.1:n.1874A>C
ENST00000689011.1:c.669A>C
ENST00000003084.11:c.4087A>C MANE Select	ENSP00000003084.6:p.Lys1363Gln
ENST00000647720.1:c.1537A>C
ENST00000649781.1:c.3904A>C	ENSP00000497203.1:p.Lys1302Gln
ENST00000003084.10:c.4087A>C	ENSP00000003084.6:p.Lys1363Gln
ENST00000426809.5:c.3997A>C	ENSP00000389119.1:p.Lys1333Gln
ENST00000600166.1:c.213A>C
NM_000492.3:c.4087A>C , LRG_663t1:c.4087A>C	NP_000483.3:p.Lys1363Gln
XM_011515751.1:c.4177A>C	XP_011514053.1:p.Lys1393Gln
XM_011515752.1:c.4177A>C	XP_011514054.1:p.Lys1393Gln
XM_011515753.1:c.3844A>C	XP_011514055.1:p.Lys1282Gln
XM_011515754.1:c.3844A>C	XP_011514056.1:p.Lys1282Gln
NM_000492.4:c.4087A>C MANE Select	NP_000483.3:p.Lys1363Gln