Canonical Allele Identifier: CA368975291

Gene: CFTR

Linked Data

• gnomAD v4: 7-117642547-C-G
• MyVariant Identifiers: chr7:g.117282601C>G (hg19) ; chr7:g.117642547C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642547C>G , CM000669.2:g.117642547C>G	GRCh38
NC_000007.13:g.117282601C>G , CM000669.1:g.117282601C>G	GRCh37
NC_000007.12:g.117069837C>G	NCBI36
NG_016465.4:g.181764C>G , LRG_663:g.181764C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*36C>G	ENSP00000497673.2:n.*36C>G
ENST00000647978.2:c.*3541C>G	ENSP00000497658.1:n.*3541C>G
ENST00000649781.2:c.3644C>G	ENSP00000497203.1:p.Ser1215Ter
ENST00000685018.2:c.3827C>G	ENSP00000510194.2:p.Ser1276Ter
ENST00000687278.2:c.*480C>G	ENSP00000509593.2:n.*480C>G
ENST00000699585.1:c.*36C>G	ENSP00000514456.1:n.*36C>G
ENST00000699598.1:c.3827C>G	ENSP00000514467.1:p.Ser1276Ter
ENST00000699599.1:c.3827C>G	ENSP00000514468.1:p.Ser1276Ter
ENST00000699600.1:c.*488C>G	ENSP00000514469.1:n.*488C>G
ENST00000699601.1:c.*2202C>G	ENSP00000514470.1:n.*2202C>G
ENST00000699602.1:c.3821C>G	ENSP00000514471.1:p.Ser1274Ter
ENST00000699604.1:c.*3651C>G	ENSP00000514472.1:n.*3651C>G
ENST00000699605.1:c.3401C>G	ENSP00000514473.1:p.Ser1134Ter
ENST00000685018.1:c.575C>G	ENSP00000510194.1:p.Ser192Ter
ENST00000687278.1:c.1614C>G	ENSP00000509593.1:n.1614C>G
ENST00000689011.1:c.409C>G
ENST00000003084.11:c.3827C>G MANE Select	ENSP00000003084.6:p.Ser1276Ter
ENST00000647720.1:c.1277C>G
ENST00000649781.1:c.3644C>G	ENSP00000497203.1:p.Ser1215Ter
ENST00000003084.10:c.3827C>G	ENSP00000003084.6:p.Ser1276Ter
ENST00000426809.5:c.3737C>G	ENSP00000389119.1:p.Ser1246Ter
NM_000492.3:c.3827C>G , LRG_663t1:c.3827C>G	NP_000483.3:p.Ser1276Ter
XM_011515751.1:c.3917C>G	XP_011514053.1:p.Ser1306Ter
XM_011515752.1:c.3917C>G	XP_011514054.1:p.Ser1306Ter
XM_011515753.1:c.3584C>G	XP_011514055.1:p.Ser1195Ter
XM_011515754.1:c.3584C>G	XP_011514056.1:p.Ser1195Ter
NM_000492.4:c.3827C>G MANE Select	NP_000483.3:p.Ser1276Ter