Canonical Allele Identifier: CA368975199

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282594T>G (hg19) ; chr7:g.117642540T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642540T>G , CM000669.2:g.117642540T>G	GRCh38
NC_000007.13:g.117282594T>G , CM000669.1:g.117282594T>G	GRCh37
NC_000007.12:g.117069830T>G	NCBI36
NG_016465.4:g.181757T>G , LRG_663:g.181757T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*29T>G	ENSP00000497673.2:n.*29T>G
ENST00000647978.2:c.*3534T>G	ENSP00000497658.1:n.*3534T>G
ENST00000649781.2:c.3637T>G	ENSP00000497203.1:p.Trp1213Gly
ENST00000685018.2:c.3820T>G	ENSP00000510194.2:p.Trp1274Gly
ENST00000687278.2:c.*473T>G	ENSP00000509593.2:n.*473T>G
ENST00000699585.1:c.*29T>G	ENSP00000514456.1:n.*29T>G
ENST00000699598.1:c.3820T>G	ENSP00000514467.1:p.Trp1274Gly
ENST00000699599.1:c.3820T>G	ENSP00000514468.1:p.Trp1274Gly
ENST00000699600.1:c.*481T>G	ENSP00000514469.1:n.*481T>G
ENST00000699601.1:c.*2195T>G	ENSP00000514470.1:n.*2195T>G
ENST00000699602.1:c.3814T>G	ENSP00000514471.1:p.Trp1272Gly
ENST00000699604.1:c.*3644T>G	ENSP00000514472.1:n.*3644T>G
ENST00000699605.1:c.3394T>G	ENSP00000514473.1:p.Trp1132Gly
ENST00000685018.1:c.568T>G	ENSP00000510194.1:p.Trp190Gly
ENST00000687278.1:c.1607T>G	ENSP00000509593.1:n.1607T>G
ENST00000689011.1:c.402T>G
ENST00000003084.11:c.3820T>G MANE Select	ENSP00000003084.6:p.Trp1274Gly
ENST00000647720.1:c.1270T>G
ENST00000649781.1:c.3637T>G	ENSP00000497203.1:p.Trp1213Gly
ENST00000003084.10:c.3820T>G	ENSP00000003084.6:p.Trp1274Gly
ENST00000426809.5:c.3730T>G	ENSP00000389119.1:p.Trp1244Gly
NM_000492.3:c.3820T>G , LRG_663t1:c.3820T>G	NP_000483.3:p.Trp1274Gly
XM_011515751.1:c.3910T>G	XP_011514053.1:p.Trp1304Gly
XM_011515752.1:c.3910T>G	XP_011514054.1:p.Trp1304Gly
XM_011515753.1:c.3577T>G	XP_011514055.1:p.Trp1193Gly
XM_011515754.1:c.3577T>G	XP_011514056.1:p.Trp1193Gly
NM_000492.4:c.3820T>G MANE Select	NP_000483.3:p.Trp1274Gly