Canonical Allele Identifier: CA368983755

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305598C>G (hg19) ; chr7:g.117665544C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665544C>G , CM000669.2:g.117665544C>G	GRCh38
NC_000007.13:g.117305598C>G , CM000669.1:g.117305598C>G	GRCh37
NC_000007.12:g.117092834C>G	NCBI36
NG_016465.4:g.204761C>G , LRG_663:g.204761C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*431C>G	ENSP00000497673.2:n.*431C>G
ENST00000647978.2:c.*3936C>G	ENSP00000497658.1:n.*3936C>G
ENST00000649781.2:c.4039C>G	ENSP00000497203.1:p.Leu1347Val
ENST00000685018.2:c.*435C>G	ENSP00000510194.2:n.*435C>G
ENST00000687278.2:c.*875C>G	ENSP00000509593.2:n.*875C>G
ENST00000699585.1:c.*431C>G	ENSP00000514456.1:n.*431C>G
ENST00000699598.1:c.4222C>G	ENSP00000514467.1:p.Leu1408Val
ENST00000699599.1:c.*435C>G	ENSP00000514468.1:n.*435C>G
ENST00000699600.1:c.*883C>G	ENSP00000514469.1:n.*883C>G
ENST00000699601.1:c.*2597C>G	ENSP00000514470.1:n.*2597C>G
ENST00000699602.1:c.4216C>G	ENSP00000514471.1:p.Leu1406Val
ENST00000699604.1:c.*4046C>G	ENSP00000514472.1:n.*4046C>G
ENST00000699605.1:c.3796C>G	ENSP00000514473.1:p.Leu1266Val
ENST00000699606.1:n.2390C>G
ENST00000685018.1:c.1086C>G	ENSP00000510194.1:n.1086C>G
ENST00000687278.1:c.2009C>G	ENSP00000509593.1:n.2009C>G
ENST00000689011.1:c.804C>G
ENST00000003084.11:c.4222C>G MANE Select	ENSP00000003084.6:p.Leu1408Val
ENST00000647720.1:c.1672C>G
ENST00000649781.1:c.4039C>G	ENSP00000497203.1:p.Leu1347Val
ENST00000003084.10:c.4222C>G	ENSP00000003084.6:p.Leu1408Val
ENST00000426809.5:c.4132C>G	ENSP00000389119.1:p.Leu1378Val
ENST00000600166.1:c.348C>G
NM_000492.3:c.4222C>G , LRG_663t1:c.4222C>G	NP_000483.3:p.Leu1408Val
XM_011515751.1:c.4312C>G	XP_011514053.1:p.Leu1438Val
XM_011515752.1:c.4312C>G	XP_011514054.1:p.Leu1438Val
XM_011515753.1:c.3979C>G	XP_011514055.1:p.Leu1327Val
XM_011515754.1:c.3979C>G	XP_011514056.1:p.Leu1327Val
NM_000492.4:c.4222C>G MANE Select	NP_000483.3:p.Leu1408Val