Canonical Allele Identifier: CA457230262

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304756T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664702T>G , CM000669.2:g.117664702T>G	GRCh38
NC_000007.13:g.117304756T>G , CM000669.1:g.117304756T>G	GRCh37
NC_000007.12:g.117091992T>G	NCBI36
NG_016465.4:g.203919T>G , LRG_663:g.203919T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*187T>G	ENSP00000497673.2:n.*187T>G
ENST00000647978.2:c.*3692T>G	ENSP00000497658.1:n.*3692T>G
ENST00000649781.2:c.3795T>G	ENSP00000497203.1:p.Ser1265=
ENST00000685018.2:c.*191T>G	ENSP00000510194.2:n.*191T>G
ENST00000687278.2:c.*631T>G	ENSP00000509593.2:n.*631T>G
ENST00000699585.1:c.*187T>G	ENSP00000514456.1:n.*187T>G
ENST00000699598.1:c.3978T>G	ENSP00000514467.1:p.Ser1326=
ENST00000699599.1:c.*191T>G	ENSP00000514468.1:n.*191T>G
ENST00000699600.1:c.*639T>G	ENSP00000514469.1:n.*639T>G
ENST00000699601.1:c.*2353T>G	ENSP00000514470.1:n.*2353T>G
ENST00000699602.1:c.3972T>G	ENSP00000514471.1:p.Ser1324=
ENST00000699604.1:c.*3802T>G	ENSP00000514472.1:n.*3802T>G
ENST00000699605.1:c.3552T>G	ENSP00000514473.1:p.Ser1184=
ENST00000699606.1:n.2146T>G
ENST00000685018.1:c.842T>G	ENSP00000510194.1:n.842T>G
ENST00000687278.1:c.1765T>G	ENSP00000509593.1:n.1765T>G
ENST00000689011.1:c.560T>G
ENST00000003084.11:c.3978T>G MANE Select	ENSP00000003084.6:p.Ser1326=
ENST00000647720.1:c.1428T>G
ENST00000649781.1:c.3795T>G	ENSP00000497203.1:p.Ser1265=
ENST00000003084.10:c.3978T>G	ENSP00000003084.6:p.Ser1326=
ENST00000426809.5:c.3888T>G	ENSP00000389119.1:p.Ser1296=
ENST00000600166.1:c.104T>G
NM_000492.3:c.3978T>G , LRG_663t1:c.3978T>G	NP_000483.3:p.Ser1326=
XM_011515751.1:c.4068T>G	XP_011514053.1:p.Ser1356=
XM_011515752.1:c.4068T>G	XP_011514054.1:p.Ser1356=
XM_011515753.1:c.3735T>G	XP_011514055.1:p.Ser1245=
XM_011515754.1:c.3735T>G	XP_011514056.1:p.Ser1245=
NM_000492.4:c.3978T>G MANE Select	NP_000483.3:p.Ser1326=