Canonical Allele Identifier: CA368981994

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304767A>C (hg19) ; chr7:g.117664713A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664713A>C , CM000669.2:g.117664713A>C	GRCh38
NC_000007.13:g.117304767A>C , CM000669.1:g.117304767A>C	GRCh37
NC_000007.12:g.117092003A>C	NCBI36
NG_016465.4:g.203930A>C , LRG_663:g.203930A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*198A>C	ENSP00000497673.2:n.*198A>C
ENST00000647978.2:c.*3703A>C	ENSP00000497658.1:n.*3703A>C
ENST00000649781.2:c.3806A>C	ENSP00000497203.1:p.Gln1269Pro
ENST00000685018.2:c.*202A>C	ENSP00000510194.2:n.*202A>C
ENST00000687278.2:c.*642A>C	ENSP00000509593.2:n.*642A>C
ENST00000699585.1:c.*198A>C	ENSP00000514456.1:n.*198A>C
ENST00000699598.1:c.3989A>C	ENSP00000514467.1:p.Gln1330Pro
ENST00000699599.1:c.*202A>C	ENSP00000514468.1:n.*202A>C
ENST00000699600.1:c.*650A>C	ENSP00000514469.1:n.*650A>C
ENST00000699601.1:c.*2364A>C	ENSP00000514470.1:n.*2364A>C
ENST00000699602.1:c.3983A>C	ENSP00000514471.1:p.Gln1328Pro
ENST00000699604.1:c.*3813A>C	ENSP00000514472.1:n.*3813A>C
ENST00000699605.1:c.3563A>C	ENSP00000514473.1:p.Gln1188Pro
ENST00000699606.1:n.2157A>C
ENST00000685018.1:c.853A>C	ENSP00000510194.1:n.853A>C
ENST00000687278.1:c.1776A>C	ENSP00000509593.1:n.1776A>C
ENST00000689011.1:c.571A>C
ENST00000003084.11:c.3989A>C MANE Select	ENSP00000003084.6:p.Gln1330Pro
ENST00000647720.1:c.1439A>C
ENST00000649781.1:c.3806A>C	ENSP00000497203.1:p.Gln1269Pro
ENST00000003084.10:c.3989A>C	ENSP00000003084.6:p.Gln1330Pro
ENST00000426809.5:c.3899A>C	ENSP00000389119.1:p.Gln1300Pro
ENST00000600166.1:c.115A>C
NM_000492.3:c.3989A>C , LRG_663t1:c.3989A>C	NP_000483.3:p.Gln1330Pro
XM_011515751.1:c.4079A>C	XP_011514053.1:p.Gln1360Pro
XM_011515752.1:c.4079A>C	XP_011514054.1:p.Gln1360Pro
XM_011515753.1:c.3746A>C	XP_011514055.1:p.Gln1249Pro
XM_011515754.1:c.3746A>C	XP_011514056.1:p.Gln1249Pro
NM_000492.4:c.3989A>C MANE Select	NP_000483.3:p.Gln1330Pro