Canonical Allele Identifier: CA368983455

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305542A>G (hg19) ; chr7:g.117665488A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665488A>G , CM000669.2:g.117665488A>G	GRCh38
NC_000007.13:g.117305542A>G , CM000669.1:g.117305542A>G	GRCh37
NC_000007.12:g.117092778A>G	NCBI36
NG_016465.4:g.204705A>G , LRG_663:g.204705A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*375A>G	ENSP00000497673.2:n.*375A>G
ENST00000647978.2:c.*3880A>G	ENSP00000497658.1:n.*3880A>G
ENST00000649781.2:c.3983A>G	ENSP00000497203.1:p.Lys1328Arg
ENST00000685018.2:c.*379A>G	ENSP00000510194.2:n.*379A>G
ENST00000687278.2:c.*819A>G	ENSP00000509593.2:n.*819A>G
ENST00000699585.1:c.*375A>G	ENSP00000514456.1:n.*375A>G
ENST00000699598.1:c.4166A>G	ENSP00000514467.1:p.Lys1389Arg
ENST00000699599.1:c.*379A>G	ENSP00000514468.1:n.*379A>G
ENST00000699600.1:c.*827A>G	ENSP00000514469.1:n.*827A>G
ENST00000699601.1:c.*2541A>G	ENSP00000514470.1:n.*2541A>G
ENST00000699602.1:c.4160A>G	ENSP00000514471.1:p.Lys1387Arg
ENST00000699604.1:c.*3990A>G	ENSP00000514472.1:n.*3990A>G
ENST00000699605.1:c.3740A>G	ENSP00000514473.1:p.Lys1247Arg
ENST00000699606.1:n.2334A>G
ENST00000685018.1:c.1030A>G	ENSP00000510194.1:n.1030A>G
ENST00000687278.1:c.1953A>G	ENSP00000509593.1:n.1953A>G
ENST00000689011.1:c.748A>G
ENST00000003084.11:c.4166A>G MANE Select	ENSP00000003084.6:p.Lys1389Arg
ENST00000647720.1:c.1616A>G
ENST00000649781.1:c.3983A>G	ENSP00000497203.1:p.Lys1328Arg
ENST00000003084.10:c.4166A>G	ENSP00000003084.6:p.Lys1389Arg
ENST00000426809.5:c.4076A>G	ENSP00000389119.1:p.Lys1359Arg
ENST00000600166.1:c.292A>G
NM_000492.3:c.4166A>G , LRG_663t1:c.4166A>G	NP_000483.3:p.Lys1389Arg
XM_011515751.1:c.4256A>G	XP_011514053.1:p.Lys1419Arg
XM_011515752.1:c.4256A>G	XP_011514054.1:p.Lys1419Arg
XM_011515753.1:c.3923A>G	XP_011514055.1:p.Lys1308Arg
XM_011515754.1:c.3923A>G	XP_011514056.1:p.Lys1308Arg
NM_000492.4:c.4166A>G MANE Select	NP_000483.3:p.Lys1389Arg