Canonical Allele Identifier: CA368996242

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267633A>C (hg19) ; chr7:g.117627579A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627579A>C , CM000669.2:g.117627579A>C	GRCh38
NC_000007.13:g.117267633A>C , CM000669.1:g.117267633A>C	GRCh37
NC_000007.12:g.117054869A>C	NCBI36
NG_016465.4:g.166796A>C , LRG_663:g.166796A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+9A>C	ENSP00000497673.2:n.3517+9A>C
ENST00000647978.2:c.*3240A>C	ENSP00000497658.1:n.*3240A>C
ENST00000649781.2:c.3343A>C	ENSP00000497203.1:p.Thr1115Pro
ENST00000685018.2:c.3526A>C	ENSP00000510194.2:p.Thr1176Pro
ENST00000687278.2:c.*179A>C	ENSP00000509593.2:n.*179A>C
ENST00000699585.1:c.3517+9A>C	ENSP00000514456.1:n.3517+9A>C
ENST00000699598.1:c.3526A>C	ENSP00000514467.1:p.Thr1176Pro
ENST00000699599.1:c.3526A>C	ENSP00000514468.1:p.Thr1176Pro
ENST00000699600.1:c.*187A>C	ENSP00000514469.1:n.*187A>C
ENST00000699601.1:c.*1901A>C	ENSP00000514470.1:n.*1901A>C
ENST00000699602.1:c.3520A>C	ENSP00000514471.1:p.Thr1174Pro
ENST00000699604.1:c.*3350A>C	ENSP00000514472.1:n.*3350A>C
ENST00000699605.1:c.3100A>C	ENSP00000514473.1:p.Thr1034Pro
ENST00000685018.1:c.274A>C	ENSP00000510194.1:p.Thr92Pro
ENST00000687278.1:c.1313A>C	ENSP00000509593.1:n.1313A>C
ENST00000689011.1:c.108A>C
ENST00000003084.11:c.3526A>C MANE Select	ENSP00000003084.6:p.Thr1176Pro
ENST00000647720.1:c.1167+9A>C
ENST00000648260.1:c.2308A>C	ENSP00000497957.1:p.Thr770Pro
ENST00000649406.1:c.3343A>C	ENSP00000497965.1:p.Thr1115Pro
ENST00000649781.1:c.3343A>C	ENSP00000497203.1:p.Thr1115Pro
ENST00000003084.10:c.3526A>C	ENSP00000003084.6:p.Thr1176Pro
ENST00000426809.5:c.3436A>C	ENSP00000389119.1:p.Thr1146Pro
ENST00000468795.1:c.351A>C
NM_000492.3:c.3526A>C , LRG_663t1:c.3526A>C	NP_000483.3:p.Thr1176Pro
XM_011515751.1:c.3616A>C	XP_011514053.1:p.Thr1206Pro
XM_011515752.1:c.3616A>C	XP_011514054.1:p.Thr1206Pro
XM_011515753.1:c.3283A>C	XP_011514055.1:p.Thr1095Pro
XM_011515754.1:c.3283A>C	XP_011514056.1:p.Thr1095Pro
NM_000492.4:c.3526A>C MANE Select	NP_000483.3:p.Thr1176Pro