Canonical Allele Identifier: CA368997179

Gene: CFTR

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627665G>C , CM000669.2:g.117627665G>C	GRCh38
NC_000007.13:g.117267719G>C , CM000669.1:g.117267719G>C	GRCh37
NC_000007.12:g.117054955G>C	NCBI36
NG_016465.4:g.166882G>C , LRG_663:g.166882G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+95G>C	ENSP00000497673.2:n.3517+95G>C
ENST00000647978.2:c.*3326G>C	ENSP00000497658.1:n.*3326G>C
ENST00000649781.2:c.3429G>C	ENSP00000497203.1:p.Trp1143Cys
ENST00000685018.2:c.3612G>C	ENSP00000510194.2:p.Trp1204Cys
ENST00000687278.2:c.*265G>C	ENSP00000509593.2:n.*265G>C
ENST00000699585.1:c.3517+95G>C	ENSP00000514456.1:n.3517+95G>C
ENST00000699598.1:c.3612G>C	ENSP00000514467.1:p.Trp1204Cys
ENST00000699599.1:c.3612G>C	ENSP00000514468.1:p.Trp1204Cys
ENST00000699600.1:c.*273G>C	ENSP00000514469.1:n.*273G>C
ENST00000699601.1:c.*1987G>C	ENSP00000514470.1:n.*1987G>C
ENST00000699602.1:c.3606G>C	ENSP00000514471.1:p.Trp1202Cys
ENST00000699604.1:c.*3436G>C	ENSP00000514472.1:n.*3436G>C
ENST00000699605.1:c.3186G>C	ENSP00000514473.1:p.Trp1062Cys
ENST00000685018.1:c.360G>C	ENSP00000510194.1:p.Trp120Cys
ENST00000687278.1:c.1399G>C	ENSP00000509593.1:n.1399G>C
ENST00000689011.1:c.194G>C
ENST00000003084.11:c.3612G>C MANE Select	ENSP00000003084.6:p.Trp1204Cys
ENST00000647720.1:c.1167+95G>C
ENST00000648260.1:c.2394G>C	ENSP00000497957.1:p.Trp798Cys
ENST00000649406.1:c.3429G>C	ENSP00000497965.1:p.Trp1143Cys
ENST00000649781.1:c.3429G>C	ENSP00000497203.1:p.Trp1143Cys
ENST00000003084.10:c.3612G>C	ENSP00000003084.6:p.Trp1204Cys
ENST00000426809.5:c.3522G>C	ENSP00000389119.1:p.Trp1174Cys
ENST00000468795.1:c.437G>C
NM_000492.3:c.3612G>C , LRG_663t1:c.3612G>C	NP_000483.3:p.Trp1204Cys
XM_011515751.1:c.3702G>C	XP_011514053.1:p.Trp1234Cys
XM_011515752.1:c.3702G>C	XP_011514054.1:p.Trp1234Cys
XM_011515753.1:c.3369G>C	XP_011514055.1:p.Trp1123Cys
XM_011515754.1:c.3369G>C	XP_011514056.1:p.Trp1123Cys
NM_000492.4:c.3612G>C MANE Select	NP_000483.3:p.Trp1204Cys