Canonical Allele Identifier: CA368983596

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305566T>G (hg19) ; chr7:g.117665512T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665512T>G , CM000669.2:g.117665512T>G	GRCh38
NC_000007.13:g.117305566T>G , CM000669.1:g.117305566T>G	GRCh37
NC_000007.12:g.117092802T>G	NCBI36
NG_016465.4:g.204729T>G , LRG_663:g.204729T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*399T>G	ENSP00000497673.2:n.*399T>G
ENST00000647978.2:c.*3904T>G	ENSP00000497658.1:n.*3904T>G
ENST00000649781.2:c.4007T>G	ENSP00000497203.1:p.Val1336Gly
ENST00000685018.2:c.*403T>G	ENSP00000510194.2:n.*403T>G
ENST00000687278.2:c.*843T>G	ENSP00000509593.2:n.*843T>G
ENST00000699585.1:c.*399T>G	ENSP00000514456.1:n.*399T>G
ENST00000699598.1:c.4190T>G	ENSP00000514467.1:p.Val1397Gly
ENST00000699599.1:c.*403T>G	ENSP00000514468.1:n.*403T>G
ENST00000699600.1:c.*851T>G	ENSP00000514469.1:n.*851T>G
ENST00000699601.1:c.*2565T>G	ENSP00000514470.1:n.*2565T>G
ENST00000699602.1:c.4184T>G	ENSP00000514471.1:p.Val1395Gly
ENST00000699604.1:c.*4014T>G	ENSP00000514472.1:n.*4014T>G
ENST00000699605.1:c.3764T>G	ENSP00000514473.1:p.Val1255Gly
ENST00000699606.1:n.2358T>G
ENST00000685018.1:c.1054T>G	ENSP00000510194.1:n.1054T>G
ENST00000687278.1:c.1977T>G	ENSP00000509593.1:n.1977T>G
ENST00000689011.1:c.772T>G
ENST00000003084.11:c.4190T>G MANE Select	ENSP00000003084.6:p.Val1397Gly
ENST00000647720.1:c.1640T>G
ENST00000649781.1:c.4007T>G	ENSP00000497203.1:p.Val1336Gly
ENST00000003084.10:c.4190T>G	ENSP00000003084.6:p.Val1397Gly
ENST00000426809.5:c.4100T>G	ENSP00000389119.1:p.Val1367Gly
ENST00000600166.1:c.316T>G
NM_000492.3:c.4190T>G , LRG_663t1:c.4190T>G	NP_000483.3:p.Val1397Gly
XM_011515751.1:c.4280T>G	XP_011514053.1:p.Val1427Gly
XM_011515752.1:c.4280T>G	XP_011514054.1:p.Val1427Gly
XM_011515753.1:c.3947T>G	XP_011514055.1:p.Val1316Gly
XM_011515754.1:c.3947T>G	XP_011514056.1:p.Val1316Gly
NM_000492.4:c.4190T>G MANE Select	NP_000483.3:p.Val1397Gly