Canonical Allele Identifier: CA368974518

Gene: CFTR

Linked Data

• ClinVar Variation Id: 618945
• ClinVar RCV Id: RCV000757851
• dbSNP Id: rs397508602
• MyVariant Identifiers: chr7:g.117282519G>C (hg19) ; chr7:g.117642465G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642465G>C , CM000669.2:g.117642465G>C	GRCh38
NC_000007.13:g.117282519G>C , CM000669.1:g.117282519G>C	GRCh37
NC_000007.12:g.117069755G>C	NCBI36
NG_016465.4:g.181682G>C , LRG_663:g.181682G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3545G>C	ENSP00000497673.2:p.Arg1182Thr
ENST00000647978.2:c.*3459G>C	ENSP00000497658.1:n.*3459G>C
ENST00000649781.2:c.3562G>C	ENSP00000497203.1:p.Gly1188Arg
ENST00000685018.2:c.3745G>C	ENSP00000510194.2:p.Gly1249Arg
ENST00000687278.2:c.*398G>C	ENSP00000509593.2:n.*398G>C
ENST00000699585.1:c.3545G>C	ENSP00000514456.1:p.Arg1182Thr
ENST00000699598.1:c.3745G>C	ENSP00000514467.1:p.Gly1249Arg
ENST00000699599.1:c.3745G>C	ENSP00000514468.1:p.Gly1249Arg
ENST00000699600.1:c.*406G>C	ENSP00000514469.1:n.*406G>C
ENST00000699601.1:c.*2120G>C	ENSP00000514470.1:n.*2120G>C
ENST00000699602.1:c.3739G>C	ENSP00000514471.1:p.Gly1247Arg
ENST00000699604.1:c.*3569G>C	ENSP00000514472.1:n.*3569G>C
ENST00000699605.1:c.3319G>C	ENSP00000514473.1:p.Gly1107Arg
ENST00000685018.1:c.493G>C	ENSP00000510194.1:p.Gly165Arg
ENST00000687278.1:c.1532G>C	ENSP00000509593.1:n.1532G>C
ENST00000689011.1:c.327G>C
ENST00000003084.11:c.3745G>C MANE Select	ENSP00000003084.6:p.Gly1249Arg
ENST00000647720.1:c.1195G>C
ENST00000649781.1:c.3562G>C	ENSP00000497203.1:p.Gly1188Arg
ENST00000003084.10:c.3745G>C	ENSP00000003084.6:p.Gly1249Arg
ENST00000426809.5:c.3655G>C	ENSP00000389119.1:p.Gly1219Arg
NM_000492.3:c.3745G>C , LRG_663t1:c.3745G>C	NP_000483.3:p.Gly1249Arg
XM_011515751.1:c.3835G>C	XP_011514053.1:p.Gly1279Arg
XM_011515752.1:c.3835G>C	XP_011514054.1:p.Gly1279Arg
XM_011515753.1:c.3502G>C	XP_011514055.1:p.Gly1168Arg
XM_011515754.1:c.3502G>C	XP_011514056.1:p.Gly1168Arg
NM_000492.4:c.3745G>C MANE Select	NP_000483.3:p.Gly1249Arg