Canonical Allele Identifier: CA368982383

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304810T>G (hg19) ; chr7:g.117664756T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664756T>G , CM000669.2:g.117664756T>G	GRCh38
NC_000007.13:g.117304810T>G , CM000669.1:g.117304810T>G	GRCh37
NC_000007.12:g.117092046T>G	NCBI36
NG_016465.4:g.203973T>G , LRG_663:g.203973T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*241T>G	ENSP00000497673.2:n.*241T>G
ENST00000647978.2:c.*3746T>G	ENSP00000497658.1:n.*3746T>G
ENST00000649781.2:c.3849T>G	ENSP00000497203.1:p.Cys1283Trp
ENST00000685018.2:c.*245T>G	ENSP00000510194.2:n.*245T>G
ENST00000687278.2:c.*685T>G	ENSP00000509593.2:n.*685T>G
ENST00000699585.1:c.*241T>G	ENSP00000514456.1:n.*241T>G
ENST00000699598.1:c.4032T>G	ENSP00000514467.1:p.Cys1344Trp
ENST00000699599.1:c.*245T>G	ENSP00000514468.1:n.*245T>G
ENST00000699600.1:c.*693T>G	ENSP00000514469.1:n.*693T>G
ENST00000699601.1:c.*2407T>G	ENSP00000514470.1:n.*2407T>G
ENST00000699602.1:c.4026T>G	ENSP00000514471.1:p.Cys1342Trp
ENST00000699604.1:c.*3856T>G	ENSP00000514472.1:n.*3856T>G
ENST00000699605.1:c.3606T>G	ENSP00000514473.1:p.Cys1202Trp
ENST00000699606.1:n.2200T>G
ENST00000685018.1:c.896T>G	ENSP00000510194.1:n.896T>G
ENST00000687278.1:c.1819T>G	ENSP00000509593.1:n.1819T>G
ENST00000689011.1:c.614T>G
ENST00000003084.11:c.4032T>G MANE Select	ENSP00000003084.6:p.Cys1344Trp
ENST00000647720.1:c.1482T>G
ENST00000649781.1:c.3849T>G	ENSP00000497203.1:p.Cys1283Trp
ENST00000003084.10:c.4032T>G	ENSP00000003084.6:p.Cys1344Trp
ENST00000426809.5:c.3942T>G	ENSP00000389119.1:p.Cys1314Trp
ENST00000600166.1:c.158T>G
NM_000492.3:c.4032T>G , LRG_663t1:c.4032T>G	NP_000483.3:p.Cys1344Trp
XM_011515751.1:c.4122T>G	XP_011514053.1:p.Cys1374Trp
XM_011515752.1:c.4122T>G	XP_011514054.1:p.Cys1374Trp
XM_011515753.1:c.3789T>G	XP_011514055.1:p.Cys1263Trp
XM_011515754.1:c.3789T>G	XP_011514056.1:p.Cys1263Trp
NM_000492.4:c.4032T>G MANE Select	NP_000483.3:p.Cys1344Trp