Canonical Allele Identifier: CA368996408

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267669T>A (hg19) ; chr7:g.117627615T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627615T>A , CM000669.2:g.117627615T>A	GRCh38
NC_000007.13:g.117267669T>A , CM000669.1:g.117267669T>A	GRCh37
NC_000007.12:g.117054905T>A	NCBI36
NG_016465.4:g.166832T>A , LRG_663:g.166832T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+45T>A	ENSP00000497673.2:n.3517+45T>A
ENST00000647978.2:c.*3276T>A	ENSP00000497658.1:n.*3276T>A
ENST00000649781.2:c.3379T>A	ENSP00000497203.1:p.Ser1127Thr
ENST00000685018.2:c.3562T>A	ENSP00000510194.2:p.Ser1188Thr
ENST00000687278.2:c.*215T>A	ENSP00000509593.2:n.*215T>A
ENST00000699585.1:c.3517+45T>A	ENSP00000514456.1:n.3517+45T>A
ENST00000699598.1:c.3562T>A	ENSP00000514467.1:p.Ser1188Thr
ENST00000699599.1:c.3562T>A	ENSP00000514468.1:p.Ser1188Thr
ENST00000699600.1:c.*223T>A	ENSP00000514469.1:n.*223T>A
ENST00000699601.1:c.*1937T>A	ENSP00000514470.1:n.*1937T>A
ENST00000699602.1:c.3556T>A	ENSP00000514471.1:p.Ser1186Thr
ENST00000699604.1:c.*3386T>A	ENSP00000514472.1:n.*3386T>A
ENST00000699605.1:c.3136T>A	ENSP00000514473.1:p.Ser1046Thr
ENST00000685018.1:c.310T>A	ENSP00000510194.1:p.Ser104Thr
ENST00000687278.1:c.1349T>A	ENSP00000509593.1:n.1349T>A
ENST00000689011.1:c.144T>A
ENST00000003084.11:c.3562T>A MANE Select	ENSP00000003084.6:p.Ser1188Thr
ENST00000647720.1:c.1167+45T>A
ENST00000648260.1:c.2344T>A	ENSP00000497957.1:p.Ser782Thr
ENST00000649406.1:c.3379T>A	ENSP00000497965.1:p.Ser1127Thr
ENST00000649781.1:c.3379T>A	ENSP00000497203.1:p.Ser1127Thr
ENST00000003084.10:c.3562T>A	ENSP00000003084.6:p.Ser1188Thr
ENST00000426809.5:c.3472T>A	ENSP00000389119.1:p.Ser1158Thr
ENST00000468795.1:c.387T>A
NM_000492.3:c.3562T>A , LRG_663t1:c.3562T>A	NP_000483.3:p.Ser1188Thr
XM_011515751.1:c.3652T>A	XP_011514053.1:p.Ser1218Thr
XM_011515752.1:c.3652T>A	XP_011514054.1:p.Ser1218Thr
XM_011515753.1:c.3319T>A	XP_011514055.1:p.Ser1107Thr
XM_011515754.1:c.3319T>A	XP_011514056.1:p.Ser1107Thr
NM_000492.4:c.3562T>A MANE Select	NP_000483.3:p.Ser1188Thr