Canonical Allele Identifier: CA368982458

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304818G>C (hg19) ; chr7:g.117664764G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664764G>C , CM000669.2:g.117664764G>C	GRCh38
NC_000007.13:g.117304818G>C , CM000669.1:g.117304818G>C	GRCh37
NC_000007.12:g.117092054G>C	NCBI36
NG_016465.4:g.203981G>C , LRG_663:g.203981G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*249G>C	ENSP00000497673.2:n.*249G>C
ENST00000647978.2:c.*3754G>C	ENSP00000497658.1:n.*3754G>C
ENST00000649781.2:c.3857G>C	ENSP00000497203.1:p.Ser1286Thr
ENST00000685018.2:c.*253G>C	ENSP00000510194.2:n.*253G>C
ENST00000687278.2:c.*693G>C	ENSP00000509593.2:n.*693G>C
ENST00000699585.1:c.*249G>C	ENSP00000514456.1:n.*249G>C
ENST00000699598.1:c.4040G>C	ENSP00000514467.1:p.Ser1347Thr
ENST00000699599.1:c.*253G>C	ENSP00000514468.1:n.*253G>C
ENST00000699600.1:c.*701G>C	ENSP00000514469.1:n.*701G>C
ENST00000699601.1:c.*2415G>C	ENSP00000514470.1:n.*2415G>C
ENST00000699602.1:c.4034G>C	ENSP00000514471.1:p.Ser1345Thr
ENST00000699604.1:c.*3864G>C	ENSP00000514472.1:n.*3864G>C
ENST00000699605.1:c.3614G>C	ENSP00000514473.1:p.Ser1205Thr
ENST00000699606.1:n.2208G>C
ENST00000685018.1:c.904G>C	ENSP00000510194.1:n.904G>C
ENST00000687278.1:c.1827G>C	ENSP00000509593.1:n.1827G>C
ENST00000689011.1:c.622G>C
ENST00000003084.11:c.4040G>C MANE Select	ENSP00000003084.6:p.Ser1347Thr
ENST00000647720.1:c.1490G>C
ENST00000649781.1:c.3857G>C	ENSP00000497203.1:p.Ser1286Thr
ENST00000003084.10:c.4040G>C	ENSP00000003084.6:p.Ser1347Thr
ENST00000426809.5:c.3950G>C	ENSP00000389119.1:p.Ser1317Thr
ENST00000600166.1:c.166G>C
NM_000492.3:c.4040G>C , LRG_663t1:c.4040G>C	NP_000483.3:p.Ser1347Thr
XM_011515751.1:c.4130G>C	XP_011514053.1:p.Ser1377Thr
XM_011515752.1:c.4130G>C	XP_011514054.1:p.Ser1377Thr
XM_011515753.1:c.3797G>C	XP_011514055.1:p.Ser1266Thr
XM_011515754.1:c.3797G>C	XP_011514056.1:p.Ser1266Thr
NM_000492.4:c.4040G>C MANE Select	NP_000483.3:p.Ser1347Thr