Canonical Allele Identifier: CA368974511

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2136607
• ClinVar RCV Id: RCV003062138 ; RCV003475487
• dbSNP Id: rs148122007
• gnomAD v4: 7-117642463-C-G
• MyVariant Identifiers: chr7:g.117282517C>G (hg19) ; chr7:g.117642463C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642463C>G , CM000669.2:g.117642463C>G	GRCh38
NC_000007.13:g.117282517C>G , CM000669.1:g.117282517C>G	GRCh37
NC_000007.12:g.117069753C>G	NCBI36
NG_016465.4:g.181680C>G , LRG_663:g.181680C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3543C>G	ENSP00000497673.2:p.Ile1181Met
ENST00000647978.2:c.*3457C>G	ENSP00000497658.1:n.*3457C>G
ENST00000649781.2:c.3560C>G	ENSP00000497203.1:p.Ser1187Ter
ENST00000685018.2:c.3743C>G	ENSP00000510194.2:p.Ser1248Ter
ENST00000687278.2:c.*396C>G	ENSP00000509593.2:n.*396C>G
ENST00000699585.1:c.3543C>G	ENSP00000514456.1:p.Ile1181Met
ENST00000699598.1:c.3743C>G	ENSP00000514467.1:p.Ser1248Ter
ENST00000699599.1:c.3743C>G	ENSP00000514468.1:p.Ser1248Ter
ENST00000699600.1:c.*404C>G	ENSP00000514469.1:n.*404C>G
ENST00000699601.1:c.*2118C>G	ENSP00000514470.1:n.*2118C>G
ENST00000699602.1:c.3737C>G	ENSP00000514471.1:p.Ser1246Ter
ENST00000699604.1:c.*3567C>G	ENSP00000514472.1:n.*3567C>G
ENST00000699605.1:c.3317C>G	ENSP00000514473.1:p.Ser1106Ter
ENST00000685018.1:c.491C>G	ENSP00000510194.1:p.Ser164Ter
ENST00000687278.1:c.1530C>G	ENSP00000509593.1:n.1530C>G
ENST00000689011.1:c.325C>G
ENST00000003084.11:c.3743C>G MANE Select	ENSP00000003084.6:p.Ser1248Ter
ENST00000647720.1:c.1193C>G
ENST00000649781.1:c.3560C>G	ENSP00000497203.1:p.Ser1187Ter
ENST00000003084.10:c.3743C>G	ENSP00000003084.6:p.Ser1248Ter
ENST00000426809.5:c.3653C>G	ENSP00000389119.1:p.Ser1218Ter
NM_000492.3:c.3743C>G , LRG_663t1:c.3743C>G	NP_000483.3:p.Ser1248Ter
XM_011515751.1:c.3833C>G	XP_011514053.1:p.Ser1278Ter
XM_011515752.1:c.3833C>G	XP_011514054.1:p.Ser1278Ter
XM_011515753.1:c.3500C>G	XP_011514055.1:p.Ser1167Ter
XM_011515754.1:c.3500C>G	XP_011514056.1:p.Ser1167Ter
NM_000492.4:c.3743C>G MANE Select	NP_000483.3:p.Ser1248Ter