Canonical Allele Identifier: CA368983688

Gene: CFTR

Linked Data

• ClinVar Variation Id: 555899
• ClinVar RCV Id: RCV000671812 ; RCV001829872 ; RCV003330893
• dbSNP Id: rs970498675
• gnomAD v2: 7-117305583-A-G
• gnomAD v3: 7-117665529-A-G
• gnomAD v4: 7-117665529-A-G
• MyVariant Identifiers: chr7:g.117305583A>G (hg19) ; chr7:g.117665529A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665529A>G , CM000669.2:g.117665529A>G	GRCh38
NC_000007.13:g.117305583A>G , CM000669.1:g.117305583A>G	GRCh37
NC_000007.12:g.117092819A>G	NCBI36
NG_016465.4:g.204746A>G , LRG_663:g.204746A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*416A>G	ENSP00000497673.2:n.*416A>G
ENST00000647978.2:c.*3921A>G	ENSP00000497658.1:n.*3921A>G
ENST00000649781.2:c.4024A>G	ENSP00000497203.1:p.Arg1342Gly
ENST00000685018.2:c.*420A>G	ENSP00000510194.2:n.*420A>G
ENST00000687278.2:c.*860A>G	ENSP00000509593.2:n.*860A>G
ENST00000699585.1:c.*416A>G	ENSP00000514456.1:n.*416A>G
ENST00000699598.1:c.4207A>G	ENSP00000514467.1:p.Arg1403Gly
ENST00000699599.1:c.*420A>G	ENSP00000514468.1:n.*420A>G
ENST00000699600.1:c.*868A>G	ENSP00000514469.1:n.*868A>G
ENST00000699601.1:c.*2582A>G	ENSP00000514470.1:n.*2582A>G
ENST00000699602.1:c.4201A>G	ENSP00000514471.1:p.Arg1401Gly
ENST00000699604.1:c.*4031A>G	ENSP00000514472.1:n.*4031A>G
ENST00000699605.1:c.3781A>G	ENSP00000514473.1:p.Arg1261Gly
ENST00000699606.1:n.2375A>G
ENST00000685018.1:c.1071A>G	ENSP00000510194.1:n.1071A>G
ENST00000687278.1:c.1994A>G	ENSP00000509593.1:n.1994A>G
ENST00000689011.1:c.789A>G
ENST00000003084.11:c.4207A>G MANE Select	ENSP00000003084.6:p.Arg1403Gly
ENST00000647720.1:c.1657A>G
ENST00000649781.1:c.4024A>G	ENSP00000497203.1:p.Arg1342Gly
ENST00000003084.10:c.4207A>G	ENSP00000003084.6:p.Arg1403Gly
ENST00000426809.5:c.4117A>G	ENSP00000389119.1:p.Arg1373Gly
ENST00000600166.1:c.333A>G
NM_000492.3:c.4207A>G , LRG_663t1:c.4207A>G	NP_000483.3:p.Arg1403Gly
XM_011515751.1:c.4297A>G	XP_011514053.1:p.Arg1433Gly
XM_011515752.1:c.4297A>G	XP_011514054.1:p.Arg1433Gly
XM_011515753.1:c.3964A>G	XP_011514055.1:p.Arg1322Gly
XM_011515754.1:c.3964A>G	XP_011514056.1:p.Arg1322Gly
NM_000492.4:c.4207A>G MANE Select	NP_000483.3:p.Arg1403Gly