Canonical Allele Identifier: CA457448820

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1780290
• ClinVar RCV Id: RCV002404260
• MyVariant Identifiers: chr7:g.117232018T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117591964T>C , CM000669.2:g.117591964T>C	GRCh38
NC_000007.13:g.117232018T>C , CM000669.1:g.117232018T>C	GRCh37
NC_000007.12:g.117019254T>C	NCBI36
NG_016465.4:g.131181T>C , LRG_663:g.131181T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1797T>C	ENSP00000497673.2:p.Thr599=
ENST00000647978.2:c.*1511T>C	ENSP00000497658.1:n.*1511T>C
ENST00000649781.2:c.1614T>C	ENSP00000497203.1:p.Thr538=
ENST00000685018.2:c.1797T>C	ENSP00000510194.2:p.Thr599=
ENST00000687278.2:c.1797T>C	ENSP00000509593.2:p.Thr599=
ENST00000699585.1:c.1797T>C	ENSP00000514456.1:p.Thr599=
ENST00000699598.1:c.1797T>C	ENSP00000514467.1:p.Thr599=
ENST00000699599.1:c.1797T>C	ENSP00000514468.1:p.Thr599=
ENST00000699600.1:c.1797T>C	ENSP00000514469.1:p.Thr599=
ENST00000699601.1:c.*97T>C	ENSP00000514470.1:n.*97T>C
ENST00000699602.1:c.1797T>C	ENSP00000514471.1:p.Thr599=
ENST00000699604.1:c.*1621T>C	ENSP00000514472.1:n.*1621T>C
ENST00000699605.1:c.1371T>C	ENSP00000514473.1:p.Thr457=
ENST00000003084.11:c.1797T>C MANE Select	ENSP00000003084.6:p.Thr599=
ENST00000647978.1:c.*1511T>C	ENSP00000497658.1:n.*1511T>C
ENST00000648260.1:c.1402-10862T>C	ENSP00000497957.1:n.1402-10862T>C
ENST00000649406.1:c.1614T>C	ENSP00000497965.1:p.Thr538=
ENST00000649781.1:c.1614T>C	ENSP00000497203.1:p.Thr538=
ENST00000003084.10:c.1797T>C	ENSP00000003084.6:p.Thr599=
ENST00000426809.5:c.1707T>C	ENSP00000389119.1:p.Thr569=
NM_000492.3:c.1797T>C , LRG_663t1:c.1797T>C	NP_000483.3:p.Thr599=
XM_011515751.1:c.1887T>C	XP_011514053.1:p.Thr629=
XM_011515752.1:c.1887T>C	XP_011514054.1:p.Thr629=
XM_011515753.1:c.1554T>C	XP_011514055.1:p.Thr518=
XM_011515754.1:c.1554T>C	XP_011514056.1:p.Thr518=
NM_000492.4:c.1797T>C MANE Select	NP_000483.3:p.Thr599=