Canonical Allele Identifier: CA368983429

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305536C>G (hg19) ; chr7:g.117665482C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665482C>G , CM000669.2:g.117665482C>G	GRCh38
NC_000007.13:g.117305536C>G , CM000669.1:g.117305536C>G	GRCh37
NC_000007.12:g.117092772C>G	NCBI36
NG_016465.4:g.204699C>G , LRG_663:g.204699C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*369C>G	ENSP00000497673.2:n.*369C>G
ENST00000647978.2:c.*3874C>G	ENSP00000497658.1:n.*3874C>G
ENST00000649781.2:c.3977C>G	ENSP00000497203.1:p.Thr1326Ser
ENST00000685018.2:c.*373C>G	ENSP00000510194.2:n.*373C>G
ENST00000687278.2:c.*813C>G	ENSP00000509593.2:n.*813C>G
ENST00000699585.1:c.*369C>G	ENSP00000514456.1:n.*369C>G
ENST00000699598.1:c.4160C>G	ENSP00000514467.1:p.Thr1387Ser
ENST00000699599.1:c.*373C>G	ENSP00000514468.1:n.*373C>G
ENST00000699600.1:c.*821C>G	ENSP00000514469.1:n.*821C>G
ENST00000699601.1:c.*2535C>G	ENSP00000514470.1:n.*2535C>G
ENST00000699602.1:c.4154C>G	ENSP00000514471.1:p.Thr1385Ser
ENST00000699604.1:c.*3984C>G	ENSP00000514472.1:n.*3984C>G
ENST00000699605.1:c.3734C>G	ENSP00000514473.1:p.Thr1245Ser
ENST00000699606.1:n.2328C>G
ENST00000685018.1:c.1024C>G	ENSP00000510194.1:n.1024C>G
ENST00000687278.1:c.1947C>G	ENSP00000509593.1:n.1947C>G
ENST00000689011.1:c.742C>G
ENST00000003084.11:c.4160C>G MANE Select	ENSP00000003084.6:p.Thr1387Ser
ENST00000647720.1:c.1610C>G
ENST00000649781.1:c.3977C>G	ENSP00000497203.1:p.Thr1326Ser
ENST00000003084.10:c.4160C>G	ENSP00000003084.6:p.Thr1387Ser
ENST00000426809.5:c.4070C>G	ENSP00000389119.1:p.Thr1357Ser
ENST00000600166.1:c.286C>G
NM_000492.3:c.4160C>G , LRG_663t1:c.4160C>G	NP_000483.3:p.Thr1387Ser
XM_011515751.1:c.4250C>G	XP_011514053.1:p.Thr1417Ser
XM_011515752.1:c.4250C>G	XP_011514054.1:p.Thr1417Ser
XM_011515753.1:c.3917C>G	XP_011514055.1:p.Thr1306Ser
XM_011515754.1:c.3917C>G	XP_011514056.1:p.Thr1306Ser
NM_000492.4:c.4160C>G MANE Select	NP_000483.3:p.Thr1387Ser