Canonical Allele Identifier: CA368974933

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282566A>T (hg19) ; chr7:g.117642512A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642512A>T , CM000669.2:g.117642512A>T	GRCh38
NC_000007.13:g.117282566A>T , CM000669.1:g.117282566A>T	GRCh37
NC_000007.12:g.117069802A>T	NCBI36
NG_016465.4:g.181729A>T , LRG_663:g.181729A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*1A>T	ENSP00000497673.2:n.*1A>T
ENST00000647978.2:c.*3506A>T	ENSP00000497658.1:n.*3506A>T
ENST00000649781.2:c.3609A>T	ENSP00000497203.1:p.Glu1203Asp
ENST00000685018.2:c.3792A>T	ENSP00000510194.2:p.Glu1264Asp
ENST00000687278.2:c.*445A>T	ENSP00000509593.2:n.*445A>T
ENST00000699585.1:c.*1A>T	ENSP00000514456.1:n.*1A>T
ENST00000699598.1:c.3792A>T	ENSP00000514467.1:p.Glu1264Asp
ENST00000699599.1:c.3792A>T	ENSP00000514468.1:p.Glu1264Asp
ENST00000699600.1:c.*453A>T	ENSP00000514469.1:n.*453A>T
ENST00000699601.1:c.*2167A>T	ENSP00000514470.1:n.*2167A>T
ENST00000699602.1:c.3786A>T	ENSP00000514471.1:p.Glu1262Asp
ENST00000699604.1:c.*3616A>T	ENSP00000514472.1:n.*3616A>T
ENST00000699605.1:c.3366A>T	ENSP00000514473.1:p.Glu1122Asp
ENST00000685018.1:c.540A>T	ENSP00000510194.1:p.Glu180Asp
ENST00000687278.1:c.1579A>T	ENSP00000509593.1:n.1579A>T
ENST00000689011.1:c.374A>T
ENST00000003084.11:c.3792A>T MANE Select	ENSP00000003084.6:p.Glu1264Asp
ENST00000647720.1:c.1242A>T
ENST00000649781.1:c.3609A>T	ENSP00000497203.1:p.Glu1203Asp
ENST00000003084.10:c.3792A>T	ENSP00000003084.6:p.Glu1264Asp
ENST00000426809.5:c.3702A>T	ENSP00000389119.1:p.Glu1234Asp
NM_000492.3:c.3792A>T , LRG_663t1:c.3792A>T	NP_000483.3:p.Glu1264Asp
XM_011515751.1:c.3882A>T	XP_011514053.1:p.Glu1294Asp
XM_011515752.1:c.3882A>T	XP_011514054.1:p.Glu1294Asp
XM_011515753.1:c.3549A>T	XP_011514055.1:p.Glu1183Asp
XM_011515754.1:c.3549A>T	XP_011514056.1:p.Glu1183Asp
NM_000492.4:c.3792A>T MANE Select	NP_000483.3:p.Glu1264Asp