Canonical Allele Identifier: CA368983842

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305617T>G (hg19) ; chr7:g.117665563T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665563T>G , CM000669.2:g.117665563T>G	GRCh38
NC_000007.13:g.117305617T>G , CM000669.1:g.117305617T>G	GRCh37
NC_000007.12:g.117092853T>G	NCBI36
NG_016465.4:g.204780T>G , LRG_663:g.204780T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*450T>G	ENSP00000497673.2:n.*450T>G
ENST00000647978.2:c.*3955T>G	ENSP00000497658.1:n.*3955T>G
ENST00000649781.2:c.4058T>G	ENSP00000497203.1:p.Leu1353Trp
ENST00000685018.2:c.*454T>G	ENSP00000510194.2:n.*454T>G
ENST00000687278.2:c.*894T>G	ENSP00000509593.2:n.*894T>G
ENST00000699585.1:c.*450T>G	ENSP00000514456.1:n.*450T>G
ENST00000699598.1:c.4241T>G	ENSP00000514467.1:p.Leu1414Trp
ENST00000699599.1:c.*454T>G	ENSP00000514468.1:n.*454T>G
ENST00000699600.1:c.*902T>G	ENSP00000514469.1:n.*902T>G
ENST00000699601.1:c.*2616T>G	ENSP00000514470.1:n.*2616T>G
ENST00000699602.1:c.4235T>G	ENSP00000514471.1:p.Leu1412Trp
ENST00000699604.1:c.*4065T>G	ENSP00000514472.1:n.*4065T>G
ENST00000699605.1:c.3815T>G	ENSP00000514473.1:p.Leu1272Trp
ENST00000699606.1:n.2409T>G
ENST00000685018.1:c.1105T>G	ENSP00000510194.1:n.1105T>G
ENST00000687278.1:c.2028T>G	ENSP00000509593.1:n.2028T>G
ENST00000689011.1:c.823T>G
ENST00000003084.11:c.4241T>G MANE Select	ENSP00000003084.6:p.Leu1414Trp
ENST00000647720.1:c.1691T>G
ENST00000649781.1:c.4058T>G	ENSP00000497203.1:p.Leu1353Trp
ENST00000003084.10:c.4241T>G	ENSP00000003084.6:p.Leu1414Trp
ENST00000426809.5:c.4151T>G	ENSP00000389119.1:p.Leu1384Trp
ENST00000600166.1:c.367T>G
NM_000492.3:c.4241T>G , LRG_663t1:c.4241T>G	NP_000483.3:p.Leu1414Trp
XM_011515751.1:c.4331T>G	XP_011514053.1:p.Leu1444Trp
XM_011515752.1:c.4331T>G	XP_011514054.1:p.Leu1444Trp
XM_011515753.1:c.3998T>G	XP_011514055.1:p.Leu1333Trp
XM_011515754.1:c.3998T>G	XP_011514056.1:p.Leu1333Trp
NM_000492.4:c.4241T>G MANE Select	NP_000483.3:p.Leu1414Trp