Canonical Allele Identifier: CA368982251

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304797T>C (hg19) ; chr7:g.117664743T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664743T>C , CM000669.2:g.117664743T>C	GRCh38
NC_000007.13:g.117304797T>C , CM000669.1:g.117304797T>C	GRCh37
NC_000007.12:g.117092033T>C	NCBI36
NG_016465.4:g.203960T>C , LRG_663:g.203960T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*228T>C	ENSP00000497673.2:n.*228T>C
ENST00000647978.2:c.*3733T>C	ENSP00000497658.1:n.*3733T>C
ENST00000649781.2:c.3836T>C	ENSP00000497203.1:p.Val1279Ala
ENST00000685018.2:c.*232T>C	ENSP00000510194.2:n.*232T>C
ENST00000687278.2:c.*672T>C	ENSP00000509593.2:n.*672T>C
ENST00000699585.1:c.*228T>C	ENSP00000514456.1:n.*228T>C
ENST00000699598.1:c.4019T>C	ENSP00000514467.1:p.Val1340Ala
ENST00000699599.1:c.*232T>C	ENSP00000514468.1:n.*232T>C
ENST00000699600.1:c.*680T>C	ENSP00000514469.1:n.*680T>C
ENST00000699601.1:c.*2394T>C	ENSP00000514470.1:n.*2394T>C
ENST00000699602.1:c.4013T>C	ENSP00000514471.1:p.Val1338Ala
ENST00000699604.1:c.*3843T>C	ENSP00000514472.1:n.*3843T>C
ENST00000699605.1:c.3593T>C	ENSP00000514473.1:p.Val1198Ala
ENST00000699606.1:n.2187T>C
ENST00000685018.1:c.883T>C	ENSP00000510194.1:n.883T>C
ENST00000687278.1:c.1806T>C	ENSP00000509593.1:n.1806T>C
ENST00000689011.1:c.601T>C
ENST00000003084.11:c.4019T>C MANE Select	ENSP00000003084.6:p.Val1340Ala
ENST00000647720.1:c.1469T>C
ENST00000649781.1:c.3836T>C	ENSP00000497203.1:p.Val1279Ala
ENST00000003084.10:c.4019T>C	ENSP00000003084.6:p.Val1340Ala
ENST00000426809.5:c.3929T>C	ENSP00000389119.1:p.Val1310Ala
ENST00000600166.1:c.145T>C
NM_000492.3:c.4019T>C , LRG_663t1:c.4019T>C	NP_000483.3:p.Val1340Ala
XM_011515751.1:c.4109T>C	XP_011514053.1:p.Val1370Ala
XM_011515752.1:c.4109T>C	XP_011514054.1:p.Val1370Ala
XM_011515753.1:c.3776T>C	XP_011514055.1:p.Val1259Ala
XM_011515754.1:c.3776T>C	XP_011514056.1:p.Val1259Ala
NM_000492.4:c.4019T>C MANE Select	NP_000483.3:p.Val1340Ala