Canonical Allele Identifier: CA368983708

Gene: CFTR

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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