Canonical Allele Identifier: CA368980062

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117232376T>G (hg19) ; chr7:g.117592322T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592322T>G , CM000669.2:g.117592322T>G	GRCh38
NC_000007.13:g.117232376T>G , CM000669.1:g.117232376T>G	GRCh37
NC_000007.12:g.117019612T>G	NCBI36
NG_016465.4:g.131539T>G , LRG_663:g.131539T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2155T>G	ENSP00000497673.2:p.Leu719Val
ENST00000647978.2:c.*1869T>G	ENSP00000497658.1:n.*1869T>G
ENST00000649781.2:c.1972T>G	ENSP00000497203.1:p.Leu658Val
ENST00000685018.2:c.2155T>G	ENSP00000510194.2:p.Leu719Val
ENST00000687278.2:c.2155T>G	ENSP00000509593.2:p.Leu719Val
ENST00000699585.1:c.2155T>G	ENSP00000514456.1:p.Leu719Val
ENST00000699598.1:c.2155T>G	ENSP00000514467.1:p.Leu719Val
ENST00000699599.1:c.2155T>G	ENSP00000514468.1:p.Leu719Val
ENST00000699600.1:c.2155T>G	ENSP00000514469.1:p.Leu719Val
ENST00000699601.1:c.*455T>G	ENSP00000514470.1:n.*455T>G
ENST00000699602.1:c.2155T>G	ENSP00000514471.1:p.Leu719Val
ENST00000699604.1:c.*1979T>G	ENSP00000514472.1:n.*1979T>G
ENST00000699605.1:c.1729T>G	ENSP00000514473.1:p.Leu577Val
ENST00000003084.11:c.2155T>G MANE Select	ENSP00000003084.6:p.Leu719Val
ENST00000647978.1:c.*1869T>G	ENSP00000497658.1:n.*1869T>G
ENST00000648260.1:c.1402-10504T>G	ENSP00000497957.1:n.1402-10504T>G
ENST00000649406.1:c.1972T>G	ENSP00000497965.1:p.Leu658Val
ENST00000649781.1:c.1972T>G	ENSP00000497203.1:p.Leu658Val
ENST00000003084.10:c.2155T>G	ENSP00000003084.6:p.Leu719Val
ENST00000426809.5:c.2065T>G	ENSP00000389119.1:p.Leu689Val
NM_000492.3:c.2155T>G , LRG_663t1:c.2155T>G	NP_000483.3:p.Leu719Val
XM_011515751.1:c.2245T>G	XP_011514053.1:p.Leu749Val
XM_011515752.1:c.2245T>G	XP_011514054.1:p.Leu749Val
XM_011515753.1:c.1912T>G	XP_011514055.1:p.Leu638Val
XM_011515754.1:c.1912T>G	XP_011514056.1:p.Leu638Val
NM_000492.4:c.2155T>G MANE Select	NP_000483.3:p.Leu719Val