Canonical Allele Identifier: CA368981237

Gene: CFTR

Linked Data

• ClinVar Variation Id: 983581
• ClinVar RCV Id: RCV001263580
• dbSNP Id: rs1457971953
• gnomAD v4: 7-117592593-C-A
• MyVariant Identifiers: chr7:g.117232647C>A (hg19) ; chr7:g.117592593C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592593C>A , CM000669.2:g.117592593C>A	GRCh38
NC_000007.13:g.117232647C>A , CM000669.1:g.117232647C>A	GRCh37
NC_000007.12:g.117019883C>A	NCBI36
NG_016465.4:g.131810C>A , LRG_663:g.131810C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2426C>A	ENSP00000497673.2:p.Ser809Ter
ENST00000647978.2:c.*2140C>A	ENSP00000497658.1:n.*2140C>A
ENST00000649781.2:c.2243C>A	ENSP00000497203.1:p.Ser748Ter
ENST00000685018.2:c.2426C>A	ENSP00000510194.2:p.Ser809Ter
ENST00000687278.2:c.2426C>A	ENSP00000509593.2:p.Ser809Ter
ENST00000699585.1:c.2426C>A	ENSP00000514456.1:p.Ser809Ter
ENST00000699598.1:c.2426C>A	ENSP00000514467.1:p.Ser809Ter
ENST00000699599.1:c.2426C>A	ENSP00000514468.1:p.Ser809Ter
ENST00000699600.1:c.2426C>A	ENSP00000514469.1:p.Ser809Ter
ENST00000699601.1:c.*726C>A	ENSP00000514470.1:n.*726C>A
ENST00000699602.1:c.2426C>A	ENSP00000514471.1:p.Ser809Ter
ENST00000699604.1:c.*2250C>A	ENSP00000514472.1:n.*2250C>A
ENST00000699605.1:c.2000C>A	ENSP00000514473.1:p.Ser667Ter
ENST00000687278.1:c.17C>A	ENSP00000509593.1:p.Ser6Ter
ENST00000003084.11:c.2426C>A MANE Select	ENSP00000003084.6:p.Ser809Ter
ENST00000647720.1:c.76C>A
ENST00000647978.1:c.*2140C>A	ENSP00000497658.1:n.*2140C>A
ENST00000648260.1:c.1402-10233C>A	ENSP00000497957.1:n.1402-10233C>A
ENST00000649406.1:c.2243C>A	ENSP00000497965.1:p.Ser748Ter
ENST00000649781.1:c.2243C>A	ENSP00000497203.1:p.Ser748Ter
ENST00000003084.10:c.2426C>A	ENSP00000003084.6:p.Ser809Ter
ENST00000426809.5:c.2336C>A	ENSP00000389119.1:p.Ser779Ter
NM_000492.3:c.2426C>A , LRG_663t1:c.2426C>A	NP_000483.3:p.Ser809Ter
XM_011515751.1:c.2516C>A	XP_011514053.1:p.Ser839Ter
XM_011515752.1:c.2516C>A	XP_011514054.1:p.Ser839Ter
XM_011515753.1:c.2183C>A	XP_011514055.1:p.Ser728Ter
XM_011515754.1:c.2183C>A	XP_011514056.1:p.Ser728Ter
NM_000492.4:c.2426C>A MANE Select	NP_000483.3:p.Ser809Ter