Canonical Allele Identifier: CA368982354

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304808T>A (hg19) ; chr7:g.117664754T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664754T>A , CM000669.2:g.117664754T>A	GRCh38
NC_000007.13:g.117304808T>A , CM000669.1:g.117304808T>A	GRCh37
NC_000007.12:g.117092044T>A	NCBI36
NG_016465.4:g.203971T>A , LRG_663:g.203971T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*239T>A	ENSP00000497673.2:n.*239T>A
ENST00000647978.2:c.*3744T>A	ENSP00000497658.1:n.*3744T>A
ENST00000649781.2:c.3847T>A	ENSP00000497203.1:p.Cys1283Ser
ENST00000685018.2:c.*243T>A	ENSP00000510194.2:n.*243T>A
ENST00000687278.2:c.*683T>A	ENSP00000509593.2:n.*683T>A
ENST00000699585.1:c.*239T>A	ENSP00000514456.1:n.*239T>A
ENST00000699598.1:c.4030T>A	ENSP00000514467.1:p.Cys1344Ser
ENST00000699599.1:c.*243T>A	ENSP00000514468.1:n.*243T>A
ENST00000699600.1:c.*691T>A	ENSP00000514469.1:n.*691T>A
ENST00000699601.1:c.*2405T>A	ENSP00000514470.1:n.*2405T>A
ENST00000699602.1:c.4024T>A	ENSP00000514471.1:p.Cys1342Ser
ENST00000699604.1:c.*3854T>A	ENSP00000514472.1:n.*3854T>A
ENST00000699605.1:c.3604T>A	ENSP00000514473.1:p.Cys1202Ser
ENST00000699606.1:n.2198T>A
ENST00000685018.1:c.894T>A	ENSP00000510194.1:n.894T>A
ENST00000687278.1:c.1817T>A	ENSP00000509593.1:n.1817T>A
ENST00000689011.1:c.612T>A
ENST00000003084.11:c.4030T>A MANE Select	ENSP00000003084.6:p.Cys1344Ser
ENST00000647720.1:c.1480T>A
ENST00000649781.1:c.3847T>A	ENSP00000497203.1:p.Cys1283Ser
ENST00000003084.10:c.4030T>A	ENSP00000003084.6:p.Cys1344Ser
ENST00000426809.5:c.3940T>A	ENSP00000389119.1:p.Cys1314Ser
ENST00000600166.1:c.156T>A
NM_000492.3:c.4030T>A , LRG_663t1:c.4030T>A	NP_000483.3:p.Cys1344Ser
XM_011515751.1:c.4120T>A	XP_011514053.1:p.Cys1374Ser
XM_011515752.1:c.4120T>A	XP_011514054.1:p.Cys1374Ser
XM_011515753.1:c.3787T>A	XP_011514055.1:p.Cys1263Ser
XM_011515754.1:c.3787T>A	XP_011514056.1:p.Cys1263Ser
NM_000492.4:c.4030T>A MANE Select	NP_000483.3:p.Cys1344Ser