Canonical Allele Identifier: CA368983710

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305586A>C (hg19) ; chr7:g.117665532A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665532A>C , CM000669.2:g.117665532A>C	GRCh38
NC_000007.13:g.117305586A>C , CM000669.1:g.117305586A>C	GRCh37
NC_000007.12:g.117092822A>C	NCBI36
NG_016465.4:g.204749A>C , LRG_663:g.204749A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*419A>C	ENSP00000497673.2:n.*419A>C
ENST00000647978.2:c.*3924A>C	ENSP00000497658.1:n.*3924A>C
ENST00000649781.2:c.4027A>C	ENSP00000497203.1:p.Ile1343Leu
ENST00000685018.2:c.*423A>C	ENSP00000510194.2:n.*423A>C
ENST00000687278.2:c.*863A>C	ENSP00000509593.2:n.*863A>C
ENST00000699585.1:c.*419A>C	ENSP00000514456.1:n.*419A>C
ENST00000699598.1:c.4210A>C	ENSP00000514467.1:p.Ile1404Leu
ENST00000699599.1:c.*423A>C	ENSP00000514468.1:n.*423A>C
ENST00000699600.1:c.*871A>C	ENSP00000514469.1:n.*871A>C
ENST00000699601.1:c.*2585A>C	ENSP00000514470.1:n.*2585A>C
ENST00000699602.1:c.4204A>C	ENSP00000514471.1:p.Ile1402Leu
ENST00000699604.1:c.*4034A>C	ENSP00000514472.1:n.*4034A>C
ENST00000699605.1:c.3784A>C	ENSP00000514473.1:p.Ile1262Leu
ENST00000699606.1:n.2378A>C
ENST00000685018.1:c.1074A>C	ENSP00000510194.1:n.1074A>C
ENST00000687278.1:c.1997A>C	ENSP00000509593.1:n.1997A>C
ENST00000689011.1:c.792A>C
ENST00000003084.11:c.4210A>C MANE Select	ENSP00000003084.6:p.Ile1404Leu
ENST00000647720.1:c.1660A>C
ENST00000649781.1:c.4027A>C	ENSP00000497203.1:p.Ile1343Leu
ENST00000003084.10:c.4210A>C	ENSP00000003084.6:p.Ile1404Leu
ENST00000426809.5:c.4120A>C	ENSP00000389119.1:p.Ile1374Leu
ENST00000600166.1:c.336A>C
NM_000492.3:c.4210A>C , LRG_663t1:c.4210A>C	NP_000483.3:p.Ile1404Leu
XM_011515751.1:c.4300A>C	XP_011514053.1:p.Ile1434Leu
XM_011515752.1:c.4300A>C	XP_011514054.1:p.Ile1434Leu
XM_011515753.1:c.3967A>C	XP_011514055.1:p.Ile1323Leu
XM_011515754.1:c.3967A>C	XP_011514056.1:p.Ile1323Leu
NM_000492.4:c.4210A>C MANE Select	NP_000483.3:p.Ile1404Leu