Canonical Allele Identifier: CA457228072

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2913023
• ClinVar RCV Id: RCV003619048
• gnomAD v4: 7-117642464-A-G
• MyVariant Identifiers: chr7:g.117282518A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642464A>G , CM000669.2:g.117642464A>G	GRCh38
NC_000007.13:g.117282518A>G , CM000669.1:g.117282518A>G	GRCh37
NC_000007.12:g.117069754A>G	NCBI36
NG_016465.4:g.181681A>G , LRG_663:g.181681A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3544A>G	ENSP00000497673.2:p.Arg1182Gly
ENST00000647978.2:c.*3458A>G	ENSP00000497658.1:n.*3458A>G
ENST00000649781.2:c.3561A>G	ENSP00000497203.1:p.Ser1187=
ENST00000685018.2:c.3744A>G	ENSP00000510194.2:p.Ser1248=
ENST00000687278.2:c.*397A>G	ENSP00000509593.2:n.*397A>G
ENST00000699585.1:c.3544A>G	ENSP00000514456.1:p.Arg1182Gly
ENST00000699598.1:c.3744A>G	ENSP00000514467.1:p.Ser1248=
ENST00000699599.1:c.3744A>G	ENSP00000514468.1:p.Ser1248=
ENST00000699600.1:c.*405A>G	ENSP00000514469.1:n.*405A>G
ENST00000699601.1:c.*2119A>G	ENSP00000514470.1:n.*2119A>G
ENST00000699602.1:c.3738A>G	ENSP00000514471.1:p.Ser1246=
ENST00000699604.1:c.*3568A>G	ENSP00000514472.1:n.*3568A>G
ENST00000699605.1:c.3318A>G	ENSP00000514473.1:p.Ser1106=
ENST00000685018.1:c.492A>G	ENSP00000510194.1:p.Ser164=
ENST00000687278.1:c.1531A>G	ENSP00000509593.1:n.1531A>G
ENST00000689011.1:c.326A>G
ENST00000003084.11:c.3744A>G MANE Select	ENSP00000003084.6:p.Ser1248=
ENST00000647720.1:c.1194A>G
ENST00000649781.1:c.3561A>G	ENSP00000497203.1:p.Ser1187=
ENST00000003084.10:c.3744A>G	ENSP00000003084.6:p.Ser1248=
ENST00000426809.5:c.3654A>G	ENSP00000389119.1:p.Ser1218=
NM_000492.3:c.3744A>G , LRG_663t1:c.3744A>G	NP_000483.3:p.Ser1248=
XM_011515751.1:c.3834A>G	XP_011514053.1:p.Ser1278=
XM_011515752.1:c.3834A>G	XP_011514054.1:p.Ser1278=
XM_011515753.1:c.3501A>G	XP_011514055.1:p.Ser1167=
XM_011515754.1:c.3501A>G	XP_011514056.1:p.Ser1167=
NM_000492.4:c.3744A>G MANE Select	NP_000483.3:p.Ser1248=