Canonical Allele Identifier: CA368983366

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305525A>G (hg19) ; chr7:g.117665471A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665471A>G , CM000669.2:g.117665471A>G	GRCh38
NC_000007.13:g.117305525A>G , CM000669.1:g.117305525A>G	GRCh37
NC_000007.12:g.117092761A>G	NCBI36
NG_016465.4:g.204688A>G , LRG_663:g.204688A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*358A>G	ENSP00000497673.2:n.*358A>G
ENST00000647978.2:c.*3863A>G	ENSP00000497658.1:n.*3863A>G
ENST00000649781.2:c.3966A>G	ENSP00000497203.1:p.Ile1322Met
ENST00000685018.2:c.*362A>G	ENSP00000510194.2:n.*362A>G
ENST00000687278.2:c.*802A>G	ENSP00000509593.2:n.*802A>G
ENST00000699585.1:c.*358A>G	ENSP00000514456.1:n.*358A>G
ENST00000699598.1:c.4149A>G	ENSP00000514467.1:p.Ile1383Met
ENST00000699599.1:c.*362A>G	ENSP00000514468.1:n.*362A>G
ENST00000699600.1:c.*810A>G	ENSP00000514469.1:n.*810A>G
ENST00000699601.1:c.*2524A>G	ENSP00000514470.1:n.*2524A>G
ENST00000699602.1:c.4143A>G	ENSP00000514471.1:p.Ile1381Met
ENST00000699604.1:c.*3973A>G	ENSP00000514472.1:n.*3973A>G
ENST00000699605.1:c.3723A>G	ENSP00000514473.1:p.Ile1241Met
ENST00000699606.1:n.2317A>G
ENST00000685018.1:c.1013A>G	ENSP00000510194.1:n.1013A>G
ENST00000687278.1:c.1936A>G	ENSP00000509593.1:n.1936A>G
ENST00000689011.1:c.731A>G
ENST00000003084.11:c.4149A>G MANE Select	ENSP00000003084.6:p.Ile1383Met
ENST00000647720.1:c.1599A>G
ENST00000649781.1:c.3966A>G	ENSP00000497203.1:p.Ile1322Met
ENST00000003084.10:c.4149A>G	ENSP00000003084.6:p.Ile1383Met
ENST00000426809.5:c.4059A>G	ENSP00000389119.1:p.Ile1353Met
ENST00000600166.1:c.275A>G
NM_000492.3:c.4149A>G , LRG_663t1:c.4149A>G	NP_000483.3:p.Ile1383Met
XM_011515751.1:c.4239A>G	XP_011514053.1:p.Ile1413Met
XM_011515752.1:c.4239A>G	XP_011514054.1:p.Ile1413Met
XM_011515753.1:c.3906A>G	XP_011514055.1:p.Ile1302Met
XM_011515754.1:c.3906A>G	XP_011514056.1:p.Ile1302Met
NM_000492.4:c.4149A>G MANE Select	NP_000483.3:p.Ile1383Met