Canonical Allele Identifier: CA368984361

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1024644
• ClinVar RCV Id: RCV001324856 ; RCV001830995
• dbSNP Id: rs779591474
• gnomAD v2: 7-117306963-T-G
• gnomAD v4: 7-117666909-T-G
• MyVariant Identifiers: chr7:g.117306963T>G (hg19) ; chr7:g.117666909T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666909T>G , CM000669.2:g.117666909T>G	GRCh38
NC_000007.13:g.117306963T>G , CM000669.1:g.117306963T>G	GRCh37
NC_000007.12:g.117094199T>G	NCBI36
NG_016465.4:g.206126T>G , LRG_663:g.206126T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*453T>G	ENSP00000497673.2:n.*453T>G
ENST00000647978.2:c.*3958T>G	ENSP00000497658.1:n.*3958T>G
ENST00000649781.2:c.4061T>G	ENSP00000497203.1:p.Val1354Gly
ENST00000685018.2:c.*457T>G	ENSP00000510194.2:n.*457T>G
ENST00000687278.2:c.*896-693T>G	ENSP00000509593.2:n.*896-693T>G
ENST00000699585.1:c.*713T>G	ENSP00000514456.1:n.*713T>G
ENST00000699598.1:c.4243-6T>G	ENSP00000514467.1:n.4243-6T>G
ENST00000699599.1:c.*457T>G	ENSP00000514468.1:n.*457T>G
ENST00000699600.1:c.*904-693T>G	ENSP00000514469.1:n.*904-693T>G
ENST00000699601.1:c.*2619T>G	ENSP00000514470.1:n.*2619T>G
ENST00000699602.1:c.4238T>G	ENSP00000514471.1:p.Val1413Gly
ENST00000699604.1:c.*4068T>G	ENSP00000514472.1:n.*4068T>G
ENST00000699605.1:c.3818T>G	ENSP00000514473.1:p.Val1273Gly
ENST00000699606.1:n.3755T>G
ENST00000685018.1:c.1108T>G	ENSP00000510194.1:n.1108T>G
ENST00000687278.1:c.2030-693T>G	ENSP00000509593.1:n.2030-693T>G
ENST00000689011.1:c.1086T>G
ENST00000003084.11:c.4244T>G MANE Select	ENSP00000003084.6:p.Val1415Gly
ENST00000647720.1:c.1694T>G
ENST00000649781.1:c.4061T>G	ENSP00000497203.1:p.Val1354Gly
ENST00000003084.10:c.4244T>G	ENSP00000003084.6:p.Val1415Gly
ENST00000426809.5:c.4154T>G	ENSP00000389119.1:p.Val1385Gly
ENST00000600166.1:c.368+1345T>G
NM_000492.3:c.4244T>G , LRG_663t1:c.4244T>G	NP_000483.3:p.Val1415Gly
XM_011515751.1:c.4334T>G	XP_011514053.1:p.Val1445Gly
XM_011515753.1:c.4001T>G	XP_011514055.1:p.Val1334Gly
XM_011515754.1:c.4001T>G	XP_011514056.1:p.Val1334Gly
NM_000492.4:c.4244T>G MANE Select	NP_000483.3:p.Val1415Gly