Canonical Allele Identifier: CA368982336

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304805G>T (hg19) ; chr7:g.117664751G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664751G>T , CM000669.2:g.117664751G>T	GRCh38
NC_000007.13:g.117304805G>T , CM000669.1:g.117304805G>T	GRCh37
NC_000007.12:g.117092041G>T	NCBI36
NG_016465.4:g.203968G>T , LRG_663:g.203968G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*236G>T	ENSP00000497673.2:n.*236G>T
ENST00000647978.2:c.*3741G>T	ENSP00000497658.1:n.*3741G>T
ENST00000649781.2:c.3844G>T	ENSP00000497203.1:p.Gly1282Cys
ENST00000685018.2:c.*240G>T	ENSP00000510194.2:n.*240G>T
ENST00000687278.2:c.*680G>T	ENSP00000509593.2:n.*680G>T
ENST00000699585.1:c.*236G>T	ENSP00000514456.1:n.*236G>T
ENST00000699598.1:c.4027G>T	ENSP00000514467.1:p.Gly1343Cys
ENST00000699599.1:c.*240G>T	ENSP00000514468.1:n.*240G>T
ENST00000699600.1:c.*688G>T	ENSP00000514469.1:n.*688G>T
ENST00000699601.1:c.*2402G>T	ENSP00000514470.1:n.*2402G>T
ENST00000699602.1:c.4021G>T	ENSP00000514471.1:p.Gly1341Cys
ENST00000699604.1:c.*3851G>T	ENSP00000514472.1:n.*3851G>T
ENST00000699605.1:c.3601G>T	ENSP00000514473.1:p.Gly1201Cys
ENST00000699606.1:n.2195G>T
ENST00000685018.1:c.891G>T	ENSP00000510194.1:n.891G>T
ENST00000687278.1:c.1814G>T	ENSP00000509593.1:n.1814G>T
ENST00000689011.1:c.609G>T
ENST00000003084.11:c.4027G>T MANE Select	ENSP00000003084.6:p.Gly1343Cys
ENST00000647720.1:c.1477G>T
ENST00000649781.1:c.3844G>T	ENSP00000497203.1:p.Gly1282Cys
ENST00000003084.10:c.4027G>T	ENSP00000003084.6:p.Gly1343Cys
ENST00000426809.5:c.3937G>T	ENSP00000389119.1:p.Gly1313Cys
ENST00000600166.1:c.153G>T
NM_000492.3:c.4027G>T , LRG_663t1:c.4027G>T	NP_000483.3:p.Gly1343Cys
XM_011515751.1:c.4117G>T	XP_011514053.1:p.Gly1373Cys
XM_011515752.1:c.4117G>T	XP_011514054.1:p.Gly1373Cys
XM_011515753.1:c.3784G>T	XP_011514055.1:p.Gly1262Cys
XM_011515754.1:c.3784G>T	XP_011514056.1:p.Gly1262Cys
NM_000492.4:c.4027G>T MANE Select	NP_000483.3:p.Gly1343Cys