Canonical Allele Identifier: CA368986423

Gene: CFTR

Linked Data

• ClinVar Variation Id: 859904
• ClinVar RCV Id: RCV001066117
• dbSNP Id: rs1792256745
• MyVariant Identifiers: chr7:g.117243611A>G (hg19) ; chr7:g.117603557A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603557A>G , CM000669.2:g.117603557A>G	GRCh38
NC_000007.13:g.117243611A>G , CM000669.1:g.117243611A>G	GRCh37
NC_000007.12:g.117030847A>G	NCBI36
NG_016465.4:g.142774A>G , LRG_663:g.142774A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2683A>G	ENSP00000497673.2:p.Ser895Gly
ENST00000647978.2:c.*2397A>G	ENSP00000497658.1:n.*2397A>G
ENST00000649781.2:c.2500A>G	ENSP00000497203.1:p.Ser834Gly
ENST00000685018.2:c.2683A>G	ENSP00000510194.2:p.Ser895Gly
ENST00000687278.2:c.2683A>G	ENSP00000509593.2:p.Ser895Gly
ENST00000699585.1:c.2683A>G	ENSP00000514456.1:p.Ser895Gly
ENST00000699598.1:c.2683A>G	ENSP00000514467.1:p.Ser895Gly
ENST00000699599.1:c.2683A>G	ENSP00000514468.1:p.Ser895Gly
ENST00000699600.1:c.2683A>G	ENSP00000514469.1:p.Ser895Gly
ENST00000699601.1:c.*983A>G	ENSP00000514470.1:n.*983A>G
ENST00000699602.1:c.2683A>G	ENSP00000514471.1:p.Ser895Gly
ENST00000699604.1:c.*2507A>G	ENSP00000514472.1:n.*2507A>G
ENST00000699605.1:c.2257A>G	ENSP00000514473.1:p.Ser753Gly
ENST00000687278.1:c.274A>G	ENSP00000509593.1:p.Ser92Gly
ENST00000003084.11:c.2683A>G MANE Select	ENSP00000003084.6:p.Ser895Gly
ENST00000647720.1:c.333A>G
ENST00000648260.1:c.1465A>G	ENSP00000497957.1:p.Ser489Gly
ENST00000649406.1:c.2500A>G	ENSP00000497965.1:p.Ser834Gly
ENST00000649781.1:c.2500A>G	ENSP00000497203.1:p.Ser834Gly
ENST00000003084.10:c.2683A>G	ENSP00000003084.6:p.Ser895Gly
ENST00000426809.5:c.2593A>G	ENSP00000389119.1:p.Ser865Gly
NM_000492.3:c.2683A>G , LRG_663t1:c.2683A>G	NP_000483.3:p.Ser895Gly
XM_011515751.1:c.2773A>G	XP_011514053.1:p.Ser925Gly
XM_011515752.1:c.2773A>G	XP_011514054.1:p.Ser925Gly
XM_011515753.1:c.2440A>G	XP_011514055.1:p.Ser814Gly
XM_011515754.1:c.2440A>G	XP_011514056.1:p.Ser814Gly
NM_000492.4:c.2683A>G MANE Select	NP_000483.3:p.Ser895Gly