Canonical Allele Identifier: CA327395

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664815C>T , CM000669.2:g.117664815C>T	GRCh38
NC_000007.13:g.117304869C>T , CM000669.1:g.117304869C>T	GRCh37
NC_000007.12:g.117092105C>T	NCBI36
NG_016465.4:g.204032C>T , LRG_663:g.204032C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.4091C>T MANE Select	NP_000483.3:p.Ala1364Val
ENST00000003084.11:c.4091C>T MANE Select	ENSP00000003084.6:p.Ala1364Val
NM_000492.3:c.4091C>T , LRG_663t1:c.4091C>T	NP_000483.3:p.Ala1364Val
ENST00000003084.10:c.4091C>T	ENSP00000003084.6:p.Ala1364Val
ENST00000426809.5:c.4001C>T	ENSP00000389119.1:p.Ala1334Val
ENST00000600166.1:c.217C>T
ENST00000647720.1:c.1541C>T
ENST00000647720.2:c.*300C>T	ENSP00000497673.2:n.*300C>T
ENST00000647978.2:c.*3805C>T	ENSP00000497658.1:n.*3805C>T
ENST00000649781.1:c.3908C>T	ENSP00000497203.1:p.Ala1303Val
ENST00000649781.2:c.3908C>T	ENSP00000497203.1:p.Ala1303Val
ENST00000685018.1:c.955C>T	ENSP00000510194.1:n.955C>T
ENST00000685018.2:c.*304C>T	ENSP00000510194.2:n.*304C>T
ENST00000687278.1:c.1878C>T	ENSP00000509593.1:n.1878C>T
ENST00000687278.2:c.*744C>T	ENSP00000509593.2:n.*744C>T
ENST00000689011.1:c.673C>T
ENST00000699585.1:c.*300C>T	ENSP00000514456.1:n.*300C>T
ENST00000699598.1:c.4091C>T	ENSP00000514467.1:p.Ala1364Val
ENST00000699599.1:c.*304C>T	ENSP00000514468.1:n.*304C>T
ENST00000699600.1:c.*752C>T	ENSP00000514469.1:n.*752C>T
ENST00000699601.1:c.*2466C>T	ENSP00000514470.1:n.*2466C>T
ENST00000699602.1:c.4085C>T	ENSP00000514471.1:p.Ala1362Val
ENST00000699604.1:c.*3915C>T	ENSP00000514472.1:n.*3915C>T
ENST00000699605.1:c.3665C>T	ENSP00000514473.1:p.Ala1222Val
ENST00000699606.1:n.2259C>T
XM_011515751.1:c.4181C>T	XP_011514053.1:p.Ala1394Val
XM_011515752.1:c.4181C>T	XP_011514054.1:p.Ala1394Val
XM_011515753.1:c.3848C>T	XP_011514055.1:p.Ala1283Val
XM_011515754.1:c.3848C>T	XP_011514056.1:p.Ala1283Val