Canonical Allele Identifier: CA368984363

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117306965A>C (hg19) ; chr7:g.117666911A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666911A>C , CM000669.2:g.117666911A>C	GRCh38
NC_000007.13:g.117306965A>C , CM000669.1:g.117306965A>C	GRCh37
NC_000007.12:g.117094201A>C	NCBI36
NG_016465.4:g.206128A>C , LRG_663:g.206128A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*455A>C	ENSP00000497673.2:n.*455A>C
ENST00000647978.2:c.*3960A>C	ENSP00000497658.1:n.*3960A>C
ENST00000649781.2:c.4063A>C	ENSP00000497203.1:p.Ile1355Leu
ENST00000685018.2:c.*459A>C	ENSP00000510194.2:n.*459A>C
ENST00000687278.2:c.*896-691A>C	ENSP00000509593.2:n.*896-691A>C
ENST00000699585.1:c.*715A>C	ENSP00000514456.1:n.*715A>C
ENST00000699598.1:c.4243-4A>C	ENSP00000514467.1:n.4243-4A>C
ENST00000699599.1:c.*459A>C	ENSP00000514468.1:n.*459A>C
ENST00000699600.1:c.*904-691A>C	ENSP00000514469.1:n.*904-691A>C
ENST00000699601.1:c.*2621A>C	ENSP00000514470.1:n.*2621A>C
ENST00000699602.1:c.4240A>C	ENSP00000514471.1:p.Ile1414Leu
ENST00000699604.1:c.*4070A>C	ENSP00000514472.1:n.*4070A>C
ENST00000699605.1:c.3820A>C	ENSP00000514473.1:p.Ile1274Leu
ENST00000699606.1:n.3757A>C
ENST00000685018.1:c.1110A>C	ENSP00000510194.1:n.1110A>C
ENST00000687278.1:c.2030-691A>C	ENSP00000509593.1:n.2030-691A>C
ENST00000689011.1:c.1088A>C
ENST00000003084.11:c.4246A>C MANE Select	ENSP00000003084.6:p.Ile1416Leu
ENST00000647720.1:c.1696A>C
ENST00000649781.1:c.4063A>C	ENSP00000497203.1:p.Ile1355Leu
ENST00000003084.10:c.4246A>C	ENSP00000003084.6:p.Ile1416Leu
ENST00000426809.5:c.4156A>C	ENSP00000389119.1:p.Ile1386Leu
ENST00000600166.1:c.368+1347A>C
NM_000492.3:c.4246A>C , LRG_663t1:c.4246A>C	NP_000483.3:p.Ile1416Leu
XM_011515751.1:c.4336A>C	XP_011514053.1:p.Ile1446Leu
XM_011515753.1:c.4003A>C	XP_011514055.1:p.Ile1335Leu
XM_011515754.1:c.4003A>C	XP_011514056.1:p.Ile1335Leu
NM_000492.4:c.4246A>C MANE Select	NP_000483.3:p.Ile1416Leu