Canonical Allele Identifier: CA368982029

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304770T>C (hg19) ; chr7:g.117664716T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664716T>C , CM000669.2:g.117664716T>C	GRCh38
NC_000007.13:g.117304770T>C , CM000669.1:g.117304770T>C	GRCh37
NC_000007.12:g.117092006T>C	NCBI36
NG_016465.4:g.203933T>C , LRG_663:g.203933T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*201T>C	ENSP00000497673.2:n.*201T>C
ENST00000647978.2:c.*3706T>C	ENSP00000497658.1:n.*3706T>C
ENST00000649781.2:c.3809T>C	ENSP00000497203.1:p.Phe1270Ser
ENST00000685018.2:c.*205T>C	ENSP00000510194.2:n.*205T>C
ENST00000687278.2:c.*645T>C	ENSP00000509593.2:n.*645T>C
ENST00000699585.1:c.*201T>C	ENSP00000514456.1:n.*201T>C
ENST00000699598.1:c.3992T>C	ENSP00000514467.1:p.Phe1331Ser
ENST00000699599.1:c.*205T>C	ENSP00000514468.1:n.*205T>C
ENST00000699600.1:c.*653T>C	ENSP00000514469.1:n.*653T>C
ENST00000699601.1:c.*2367T>C	ENSP00000514470.1:n.*2367T>C
ENST00000699602.1:c.3986T>C	ENSP00000514471.1:p.Phe1329Ser
ENST00000699604.1:c.*3816T>C	ENSP00000514472.1:n.*3816T>C
ENST00000699605.1:c.3566T>C	ENSP00000514473.1:p.Phe1189Ser
ENST00000699606.1:n.2160T>C
ENST00000685018.1:c.856T>C	ENSP00000510194.1:n.856T>C
ENST00000687278.1:c.1779T>C	ENSP00000509593.1:n.1779T>C
ENST00000689011.1:c.574T>C
ENST00000003084.11:c.3992T>C MANE Select	ENSP00000003084.6:p.Phe1331Ser
ENST00000647720.1:c.1442T>C
ENST00000649781.1:c.3809T>C	ENSP00000497203.1:p.Phe1270Ser
ENST00000003084.10:c.3992T>C	ENSP00000003084.6:p.Phe1331Ser
ENST00000426809.5:c.3902T>C	ENSP00000389119.1:p.Phe1301Ser
ENST00000600166.1:c.118T>C
NM_000492.3:c.3992T>C , LRG_663t1:c.3992T>C	NP_000483.3:p.Phe1331Ser
XM_011515751.1:c.4082T>C	XP_011514053.1:p.Phe1361Ser
XM_011515752.1:c.4082T>C	XP_011514054.1:p.Phe1361Ser
XM_011515753.1:c.3749T>C	XP_011514055.1:p.Phe1250Ser
XM_011515754.1:c.3749T>C	XP_011514056.1:p.Phe1250Ser
NM_000492.4:c.3992T>C MANE Select	NP_000483.3:p.Phe1331Ser