Canonical Allele Identifier: CA368983440

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305539T>G (hg19) ; chr7:g.117665485T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665485T>G , CM000669.2:g.117665485T>G	GRCh38
NC_000007.13:g.117305539T>G , CM000669.1:g.117305539T>G	GRCh37
NC_000007.12:g.117092775T>G	NCBI36
NG_016465.4:g.204702T>G , LRG_663:g.204702T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*372T>G	ENSP00000497673.2:n.*372T>G
ENST00000647978.2:c.*3877T>G	ENSP00000497658.1:n.*3877T>G
ENST00000649781.2:c.3980T>G	ENSP00000497203.1:p.Leu1327Arg
ENST00000685018.2:c.*376T>G	ENSP00000510194.2:n.*376T>G
ENST00000687278.2:c.*816T>G	ENSP00000509593.2:n.*816T>G
ENST00000699585.1:c.*372T>G	ENSP00000514456.1:n.*372T>G
ENST00000699598.1:c.4163T>G	ENSP00000514467.1:p.Leu1388Arg
ENST00000699599.1:c.*376T>G	ENSP00000514468.1:n.*376T>G
ENST00000699600.1:c.*824T>G	ENSP00000514469.1:n.*824T>G
ENST00000699601.1:c.*2538T>G	ENSP00000514470.1:n.*2538T>G
ENST00000699602.1:c.4157T>G	ENSP00000514471.1:p.Leu1386Arg
ENST00000699604.1:c.*3987T>G	ENSP00000514472.1:n.*3987T>G
ENST00000699605.1:c.3737T>G	ENSP00000514473.1:p.Leu1246Arg
ENST00000699606.1:n.2331T>G
ENST00000685018.1:c.1027T>G	ENSP00000510194.1:n.1027T>G
ENST00000687278.1:c.1950T>G	ENSP00000509593.1:n.1950T>G
ENST00000689011.1:c.745T>G
ENST00000003084.11:c.4163T>G MANE Select	ENSP00000003084.6:p.Leu1388Arg
ENST00000647720.1:c.1613T>G
ENST00000649781.1:c.3980T>G	ENSP00000497203.1:p.Leu1327Arg
ENST00000003084.10:c.4163T>G	ENSP00000003084.6:p.Leu1388Arg
ENST00000426809.5:c.4073T>G	ENSP00000389119.1:p.Leu1358Arg
ENST00000600166.1:c.289T>G
NM_000492.3:c.4163T>G , LRG_663t1:c.4163T>G	NP_000483.3:p.Leu1388Arg
XM_011515751.1:c.4253T>G	XP_011514053.1:p.Leu1418Arg
XM_011515752.1:c.4253T>G	XP_011514054.1:p.Leu1418Arg
XM_011515753.1:c.3920T>G	XP_011514055.1:p.Leu1307Arg
XM_011515754.1:c.3920T>G	XP_011514056.1:p.Leu1307Arg
NM_000492.4:c.4163T>G MANE Select	NP_000483.3:p.Leu1388Arg