Canonical Allele Identifier: CA368981726

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304746G>C (hg19) ; chr7:g.117664692G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664692G>C , CM000669.2:g.117664692G>C	GRCh38
NC_000007.13:g.117304746G>C , CM000669.1:g.117304746G>C	GRCh37
NC_000007.12:g.117091982G>C	NCBI36
NG_016465.4:g.203909G>C , LRG_663:g.203909G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*177G>C	ENSP00000497673.2:n.*177G>C
ENST00000647978.2:c.*3682G>C	ENSP00000497658.1:n.*3682G>C
ENST00000649781.2:c.3785G>C	ENSP00000497203.1:p.Gly1262Ala
ENST00000685018.2:c.*181G>C	ENSP00000510194.2:n.*181G>C
ENST00000687278.2:c.*621G>C	ENSP00000509593.2:n.*621G>C
ENST00000699585.1:c.*177G>C	ENSP00000514456.1:n.*177G>C
ENST00000699598.1:c.3968G>C	ENSP00000514467.1:p.Gly1323Ala
ENST00000699599.1:c.*181G>C	ENSP00000514468.1:n.*181G>C
ENST00000699600.1:c.*629G>C	ENSP00000514469.1:n.*629G>C
ENST00000699601.1:c.*2343G>C	ENSP00000514470.1:n.*2343G>C
ENST00000699602.1:c.3962G>C	ENSP00000514471.1:p.Gly1321Ala
ENST00000699604.1:c.*3792G>C	ENSP00000514472.1:n.*3792G>C
ENST00000699605.1:c.3542G>C	ENSP00000514473.1:p.Gly1181Ala
ENST00000699606.1:n.2136G>C
ENST00000685018.1:c.832G>C	ENSP00000510194.1:n.832G>C
ENST00000687278.1:c.1755G>C	ENSP00000509593.1:n.1755G>C
ENST00000689011.1:c.550G>C
ENST00000003084.11:c.3968G>C MANE Select	ENSP00000003084.6:p.Gly1323Ala
ENST00000647720.1:c.1418G>C
ENST00000649781.1:c.3785G>C	ENSP00000497203.1:p.Gly1262Ala
ENST00000003084.10:c.3968G>C	ENSP00000003084.6:p.Gly1323Ala
ENST00000426809.5:c.3878G>C	ENSP00000389119.1:p.Gly1293Ala
ENST00000600166.1:c.94G>C
NM_000492.3:c.3968G>C , LRG_663t1:c.3968G>C	NP_000483.3:p.Gly1323Ala
XM_011515751.1:c.4058G>C	XP_011514053.1:p.Gly1353Ala
XM_011515752.1:c.4058G>C	XP_011514054.1:p.Gly1353Ala
XM_011515753.1:c.3725G>C	XP_011514055.1:p.Gly1242Ala
XM_011515754.1:c.3725G>C	XP_011514056.1:p.Gly1242Ala
NM_000492.4:c.3968G>C MANE Select	NP_000483.3:p.Gly1323Ala