Canonical Allele Identifier: CA368984614

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117307010C>A (hg19) ; chr7:g.117666956C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666956C>A , CM000669.2:g.117666956C>A	GRCh38
NC_000007.13:g.117307010C>A , CM000669.1:g.117307010C>A	GRCh37
NC_000007.12:g.117094246C>A	NCBI36
NG_016465.4:g.206173C>A , LRG_663:g.206173C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*500C>A	ENSP00000497673.2:n.*500C>A
ENST00000647978.2:c.*4005C>A	ENSP00000497658.1:n.*4005C>A
ENST00000649781.2:c.4108C>A	ENSP00000497203.1:p.Leu1370Met
ENST00000685018.2:c.*504C>A	ENSP00000510194.2:n.*504C>A
ENST00000687278.2:c.*896-646C>A	ENSP00000509593.2:n.*896-646C>A
ENST00000699585.1:c.*760C>A	ENSP00000514456.1:n.*760C>A
ENST00000699598.1:c.4284C>A	ENSP00000514467.1:p.Cys1428Ter
ENST00000699599.1:c.*504C>A	ENSP00000514468.1:n.*504C>A
ENST00000699600.1:c.*904-646C>A	ENSP00000514469.1:n.*904-646C>A
ENST00000699601.1:c.*2666C>A	ENSP00000514470.1:n.*2666C>A
ENST00000699602.1:c.4285C>A	ENSP00000514471.1:p.Leu1429Met
ENST00000699604.1:c.*4115C>A	ENSP00000514472.1:n.*4115C>A
ENST00000699605.1:c.3865C>A	ENSP00000514473.1:p.Leu1289Met
ENST00000699606.1:n.3802C>A
ENST00000685018.1:c.1155C>A	ENSP00000510194.1:n.1155C>A
ENST00000687278.1:c.2030-646C>A	ENSP00000509593.1:n.2030-646C>A
ENST00000689011.1:c.1133C>A
ENST00000003084.11:c.4291C>A MANE Select	ENSP00000003084.6:p.Leu1431Met
ENST00000647720.1:c.1741C>A
ENST00000649781.1:c.4108C>A	ENSP00000497203.1:p.Leu1370Met
ENST00000003084.10:c.4291C>A	ENSP00000003084.6:p.Leu1431Met
ENST00000426809.5:c.4201C>A	ENSP00000389119.1:p.Leu1401Met
ENST00000600166.1:c.368+1392C>A
NM_000492.3:c.4291C>A , LRG_663t1:c.4291C>A	NP_000483.3:p.Leu1431Met
XM_011515751.1:c.4381C>A	XP_011514053.1:p.Leu1461Met
XM_011515753.1:c.4048C>A	XP_011514055.1:p.Leu1350Met
XM_011515754.1:c.4048C>A	XP_011514056.1:p.Leu1350Met
NM_000492.4:c.4291C>A MANE Select	NP_000483.3:p.Leu1431Met