Canonical Allele Identifier: CA368983791

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305607C>A (hg19) ; chr7:g.117665553C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665553C>A , CM000669.2:g.117665553C>A	GRCh38
NC_000007.13:g.117305607C>A , CM000669.1:g.117305607C>A	GRCh37
NC_000007.12:g.117092843C>A	NCBI36
NG_016465.4:g.204770C>A , LRG_663:g.204770C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*440C>A	ENSP00000497673.2:n.*440C>A
ENST00000647978.2:c.*3945C>A	ENSP00000497658.1:n.*3945C>A
ENST00000649781.2:c.4048C>A	ENSP00000497203.1:p.Gln1350Lys
ENST00000685018.2:c.*444C>A	ENSP00000510194.2:n.*444C>A
ENST00000687278.2:c.*884C>A	ENSP00000509593.2:n.*884C>A
ENST00000699585.1:c.*440C>A	ENSP00000514456.1:n.*440C>A
ENST00000699598.1:c.4231C>A	ENSP00000514467.1:p.Gln1411Lys
ENST00000699599.1:c.*444C>A	ENSP00000514468.1:n.*444C>A
ENST00000699600.1:c.*892C>A	ENSP00000514469.1:n.*892C>A
ENST00000699601.1:c.*2606C>A	ENSP00000514470.1:n.*2606C>A
ENST00000699602.1:c.4225C>A	ENSP00000514471.1:p.Gln1409Lys
ENST00000699604.1:c.*4055C>A	ENSP00000514472.1:n.*4055C>A
ENST00000699605.1:c.3805C>A	ENSP00000514473.1:p.Gln1269Lys
ENST00000699606.1:n.2399C>A
ENST00000685018.1:c.1095C>A	ENSP00000510194.1:n.1095C>A
ENST00000687278.1:c.2018C>A	ENSP00000509593.1:n.2018C>A
ENST00000689011.1:c.813C>A
ENST00000003084.11:c.4231C>A MANE Select	ENSP00000003084.6:p.Gln1411Lys
ENST00000647720.1:c.1681C>A
ENST00000649781.1:c.4048C>A	ENSP00000497203.1:p.Gln1350Lys
ENST00000003084.10:c.4231C>A	ENSP00000003084.6:p.Gln1411Lys
ENST00000426809.5:c.4141C>A	ENSP00000389119.1:p.Gln1381Lys
ENST00000600166.1:c.357C>A
NM_000492.3:c.4231C>A , LRG_663t1:c.4231C>A	NP_000483.3:p.Gln1411Lys
XM_011515751.1:c.4321C>A	XP_011514053.1:p.Gln1441Lys
XM_011515752.1:c.4321C>A	XP_011514054.1:p.Gln1441Lys
XM_011515753.1:c.3988C>A	XP_011514055.1:p.Gln1330Lys
XM_011515754.1:c.3988C>A	XP_011514056.1:p.Gln1330Lys
NM_000492.4:c.4231C>A MANE Select	NP_000483.3:p.Gln1411Lys