Canonical Allele Identifier: CA457230256

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304750C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664696C>A , CM000669.2:g.117664696C>A	GRCh38
NC_000007.13:g.117304750C>A , CM000669.1:g.117304750C>A	GRCh37
NC_000007.12:g.117091986C>A	NCBI36
NG_016465.4:g.203913C>A , LRG_663:g.203913C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*181C>A	ENSP00000497673.2:n.*181C>A
ENST00000647978.2:c.*3686C>A	ENSP00000497658.1:n.*3686C>A
ENST00000649781.2:c.3789C>A	ENSP00000497203.1:p.Leu1263=
ENST00000685018.2:c.*185C>A	ENSP00000510194.2:n.*185C>A
ENST00000687278.2:c.*625C>A	ENSP00000509593.2:n.*625C>A
ENST00000699585.1:c.*181C>A	ENSP00000514456.1:n.*181C>A
ENST00000699598.1:c.3972C>A	ENSP00000514467.1:p.Leu1324=
ENST00000699599.1:c.*185C>A	ENSP00000514468.1:n.*185C>A
ENST00000699600.1:c.*633C>A	ENSP00000514469.1:n.*633C>A
ENST00000699601.1:c.*2347C>A	ENSP00000514470.1:n.*2347C>A
ENST00000699602.1:c.3966C>A	ENSP00000514471.1:p.Leu1322=
ENST00000699604.1:c.*3796C>A	ENSP00000514472.1:n.*3796C>A
ENST00000699605.1:c.3546C>A	ENSP00000514473.1:p.Leu1182=
ENST00000699606.1:n.2140C>A
ENST00000685018.1:c.836C>A	ENSP00000510194.1:n.836C>A
ENST00000687278.1:c.1759C>A	ENSP00000509593.1:n.1759C>A
ENST00000689011.1:c.554C>A
ENST00000003084.11:c.3972C>A MANE Select	ENSP00000003084.6:p.Leu1324=
ENST00000647720.1:c.1422C>A
ENST00000649781.1:c.3789C>A	ENSP00000497203.1:p.Leu1263=
ENST00000003084.10:c.3972C>A	ENSP00000003084.6:p.Leu1324=
ENST00000426809.5:c.3882C>A	ENSP00000389119.1:p.Leu1294=
ENST00000600166.1:c.98C>A
NM_000492.3:c.3972C>A , LRG_663t1:c.3972C>A	NP_000483.3:p.Leu1324=
XM_011515751.1:c.4062C>A	XP_011514053.1:p.Leu1354=
XM_011515752.1:c.4062C>A	XP_011514054.1:p.Leu1354=
XM_011515753.1:c.3729C>A	XP_011514055.1:p.Leu1243=
XM_011515754.1:c.3729C>A	XP_011514056.1:p.Leu1243=
NM_000492.4:c.3972C>A MANE Select	NP_000483.3:p.Leu1324=