Canonical Allele Identifier: CA368975509

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1677016
• ClinVar RCV Id: RCV002222874
• dbSNP Id: rs2116167703
• MyVariant Identifiers: chr7:g.117282625A>G (hg19) ; chr7:g.117642571A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642571A>G , CM000669.2:g.117642571A>G	GRCh38
NC_000007.13:g.117282625A>G , CM000669.1:g.117282625A>G	GRCh37
NC_000007.12:g.117069861A>G	NCBI36
NG_016465.4:g.181788A>G , LRG_663:g.181788A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*60A>G	ENSP00000497673.2:n.*60A>G
ENST00000647978.2:c.*3565A>G	ENSP00000497658.1:n.*3565A>G
ENST00000649781.2:c.3668A>G	ENSP00000497203.1:p.Lys1223Arg
ENST00000685018.2:c.3851A>G	ENSP00000510194.2:p.Lys1284Arg
ENST00000687278.2:c.*504A>G	ENSP00000509593.2:n.*504A>G
ENST00000699585.1:c.*60A>G	ENSP00000514456.1:n.*60A>G
ENST00000699598.1:c.3851A>G	ENSP00000514467.1:p.Lys1284Arg
ENST00000699599.1:c.3851A>G	ENSP00000514468.1:p.Lys1284Arg
ENST00000699600.1:c.*512A>G	ENSP00000514469.1:n.*512A>G
ENST00000699601.1:c.*2226A>G	ENSP00000514470.1:n.*2226A>G
ENST00000699602.1:c.3845A>G	ENSP00000514471.1:p.Lys1282Arg
ENST00000699604.1:c.*3675A>G	ENSP00000514472.1:n.*3675A>G
ENST00000699605.1:c.3425A>G	ENSP00000514473.1:p.Lys1142Arg
ENST00000685018.1:c.599A>G	ENSP00000510194.1:p.Lys200Arg
ENST00000687278.1:c.1638A>G	ENSP00000509593.1:n.1638A>G
ENST00000689011.1:c.433A>G
ENST00000003084.11:c.3851A>G MANE Select	ENSP00000003084.6:p.Lys1284Arg
ENST00000647720.1:c.1301A>G
ENST00000649781.1:c.3668A>G	ENSP00000497203.1:p.Lys1223Arg
ENST00000003084.10:c.3851A>G	ENSP00000003084.6:p.Lys1284Arg
ENST00000426809.5:c.3761A>G	ENSP00000389119.1:p.Lys1254Arg
NM_000492.3:c.3851A>G , LRG_663t1:c.3851A>G	NP_000483.3:p.Lys1284Arg
XM_011515751.1:c.3941A>G	XP_011514053.1:p.Lys1314Arg
XM_011515752.1:c.3941A>G	XP_011514054.1:p.Lys1314Arg
XM_011515753.1:c.3608A>G	XP_011514055.1:p.Lys1203Arg
XM_011515754.1:c.3608A>G	XP_011514056.1:p.Lys1203Arg
NM_000492.4:c.3851A>G MANE Select	NP_000483.3:p.Lys1284Arg