Canonical Allele Identifier: CA327357

Gene: CFTR

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652905C>A , CM000669.2:g.117652905C>A	GRCh38
NC_000007.13:g.117292959C>A , CM000669.1:g.117292959C>A	GRCh37
NC_000007.12:g.117080195C>A	NCBI36
NG_016465.4:g.192122C>A , LRG_663:g.192122C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*146C>A	ENSP00000497673.2:n.*146C>A
ENST00000647978.2:c.*3651C>A	ENSP00000497658.1:n.*3651C>A
ENST00000649781.2:c.3754C>A	ENSP00000497203.1:p.Gln1252Lys
ENST00000685018.2:c.*150C>A	ENSP00000510194.2:n.*150C>A
ENST00000687278.2:c.*590C>A	ENSP00000509593.2:n.*590C>A
ENST00000699585.1:c.*146C>A	ENSP00000514456.1:n.*146C>A
ENST00000699598.1:c.3937C>A	ENSP00000514467.1:p.Gln1313Lys
ENST00000699599.1:c.*150C>A	ENSP00000514468.1:n.*150C>A
ENST00000699600.1:c.*598C>A	ENSP00000514469.1:n.*598C>A
ENST00000699601.1:c.*2312C>A	ENSP00000514470.1:n.*2312C>A
ENST00000699602.1:c.3931C>A	ENSP00000514471.1:p.Gln1311Lys
ENST00000699604.1:c.*3761C>A	ENSP00000514472.1:n.*3761C>A
ENST00000699605.1:c.3511C>A	ENSP00000514473.1:p.Gln1171Lys
ENST00000699606.1:n.2105C>A
ENST00000685018.1:c.801C>A	ENSP00000510194.1:n.801C>A
ENST00000687278.1:c.1724C>A	ENSP00000509593.1:n.1724C>A
ENST00000689011.1:c.519C>A
ENST00000003084.11:c.3937C>A MANE Select	ENSP00000003084.6:p.Gln1313Lys
ENST00000647720.1:c.1387C>A
ENST00000649781.1:c.3754C>A	ENSP00000497203.1:p.Gln1252Lys
ENST00000003084.10:c.3937C>A	ENSP00000003084.6:p.Gln1313Lys
ENST00000426809.5:c.3847C>A	ENSP00000389119.1:p.Gln1283Lys
ENST00000600166.1:c.63C>A
NM_000492.3:c.3937C>A , LRG_663t1:c.3937C>A	NP_000483.3:p.Gln1313Lys
XM_011515751.1:c.4027C>A	XP_011514053.1:p.Gln1343Lys
XM_011515752.1:c.4027C>A	XP_011514054.1:p.Gln1343Lys
XM_011515753.1:c.3694C>A	XP_011514055.1:p.Gln1232Lys
XM_011515754.1:c.3694C>A	XP_011514056.1:p.Gln1232Lys
NM_000492.4:c.3937C>A MANE Select	NP_000483.3:p.Gln1313Lys