Canonical Allele Identifier: CA368985273

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667073G>T , CM000669.2:g.117667073G>T	GRCh38
NC_000007.13:g.117307127G>T , CM000669.1:g.117307127G>T	GRCh37
NC_000007.12:g.117094363G>T	NCBI36
NG_016465.4:g.206290G>T , LRG_663:g.206290G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.4408G>T MANE Select	NP_000483.3:p.Glu1470Ter
ENST00000003084.11:c.4408G>T MANE Select	ENSP00000003084.6:p.Glu1470Ter
NM_000492.3:c.4408G>T , LRG_663t1:c.4408G>T	NP_000483.3:p.Glu1470Ter
ENST00000003084.10:c.4408G>T	ENSP00000003084.6:p.Glu1470Ter
ENST00000600166.1:c.368+1509G>T
ENST00000647720.1:c.1858G>T
ENST00000647720.2:c.*617G>T	ENSP00000497673.2:n.*617G>T
ENST00000647978.2:c.*4122G>T	ENSP00000497658.1:n.*4122G>T
ENST00000649781.1:c.4225G>T	ENSP00000497203.1:p.Glu1409Ter
ENST00000649781.2:c.4225G>T	ENSP00000497203.1:p.Glu1409Ter
ENST00000685018.1:c.1272G>T	ENSP00000510194.1:n.1272G>T
ENST00000685018.2:c.*621G>T	ENSP00000510194.2:n.*621G>T
ENST00000687278.1:c.2030-529G>T	ENSP00000509593.1:n.2030-529G>T
ENST00000687278.2:c.*896-529G>T	ENSP00000509593.2:n.*896-529G>T
ENST00000689011.1:c.1250G>T
ENST00000699585.1:c.*877G>T	ENSP00000514456.1:n.*877G>T
ENST00000699598.1:c.*114G>T	ENSP00000514467.1:n.*114G>T
ENST00000699599.1:c.*621G>T	ENSP00000514468.1:n.*621G>T
ENST00000699600.1:c.*904-529G>T	ENSP00000514469.1:n.*904-529G>T
ENST00000699601.1:c.*2783G>T	ENSP00000514470.1:n.*2783G>T
ENST00000699602.1:c.4402G>T	ENSP00000514471.1:p.Glu1468Ter
ENST00000699604.1:c.*4232G>T	ENSP00000514472.1:n.*4232G>T
ENST00000699605.1:c.3982G>T	ENSP00000514473.1:p.Glu1328Ter
ENST00000699606.1:n.3919G>T
XM_011515751.1:c.4498G>T	XP_011514053.1:p.Glu1500Ter
XM_011515753.1:c.4165G>T	XP_011514055.1:p.Glu1389Ter
XM_011515754.1:c.4165G>T	XP_011514056.1:p.Glu1389Ter