Canonical Allele Identifier: CA368985177

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117307093C>A (hg19) ; chr7:g.117667039C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667039C>A , CM000669.2:g.117667039C>A	GRCh38
NC_000007.13:g.117307093C>A , CM000669.1:g.117307093C>A	GRCh37
NC_000007.12:g.117094329C>A	NCBI36
NG_016465.4:g.206256C>A , LRG_663:g.206256C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*583C>A	ENSP00000497673.2:n.*583C>A
ENST00000647978.2:c.*4088C>A	ENSP00000497658.1:n.*4088C>A
ENST00000649781.2:c.4191C>A	ENSP00000497203.1:p.Cys1397Ter
ENST00000685018.2:c.*587C>A	ENSP00000510194.2:n.*587C>A
ENST00000687278.2:c.*896-563C>A	ENSP00000509593.2:n.*896-563C>A
ENST00000699585.1:c.*843C>A	ENSP00000514456.1:n.*843C>A
ENST00000699598.1:c.*80C>A	ENSP00000514467.1:n.*80C>A
ENST00000699599.1:c.*587C>A	ENSP00000514468.1:n.*587C>A
ENST00000699600.1:c.*904-563C>A	ENSP00000514469.1:n.*904-563C>A
ENST00000699601.1:c.*2749C>A	ENSP00000514470.1:n.*2749C>A
ENST00000699602.1:c.4368C>A	ENSP00000514471.1:p.Cys1456Ter
ENST00000699604.1:c.*4198C>A	ENSP00000514472.1:n.*4198C>A
ENST00000699605.1:c.3948C>A	ENSP00000514473.1:p.Cys1316Ter
ENST00000699606.1:n.3885C>A
ENST00000685018.1:c.1238C>A	ENSP00000510194.1:n.1238C>A
ENST00000687278.1:c.2030-563C>A	ENSP00000509593.1:n.2030-563C>A
ENST00000689011.1:c.1216C>A
ENST00000003084.11:c.4374C>A MANE Select	ENSP00000003084.6:p.Cys1458Ter
ENST00000647720.1:c.1824C>A
ENST00000649781.1:c.4191C>A	ENSP00000497203.1:p.Cys1397Ter
ENST00000003084.10:c.4374C>A	ENSP00000003084.6:p.Cys1458Ter
ENST00000426809.5:c.4284C>A	ENSP00000389119.1:p.Cys1428Ter
ENST00000600166.1:c.368+1475C>A
NM_000492.3:c.4374C>A , LRG_663t1:c.4374C>A	NP_000483.3:p.Cys1458Ter
XM_011515751.1:c.4464C>A	XP_011514053.1:p.Cys1488Ter
XM_011515753.1:c.4131C>A	XP_011514055.1:p.Cys1377Ter
XM_011515754.1:c.4131C>A	XP_011514056.1:p.Cys1377Ter
NM_000492.4:c.4374C>A MANE Select	NP_000483.3:p.Cys1458Ter