Canonical Allele Identifier: CA368983788

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2116281
• ClinVar RCV Id: RCV003024642
• dbSNP Id: rs1165501753
• gnomAD v4: 7-117665552-C-A
• MyVariant Identifiers: chr7:g.117305606C>A (hg19) ; chr7:g.117665552C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665552C>A , CM000669.2:g.117665552C>A	GRCh38
NC_000007.13:g.117305606C>A , CM000669.1:g.117305606C>A	GRCh37
NC_000007.12:g.117092842C>A	NCBI36
NG_016465.4:g.204769C>A , LRG_663:g.204769C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*439C>A	ENSP00000497673.2:n.*439C>A
ENST00000647978.2:c.*3944C>A	ENSP00000497658.1:n.*3944C>A
ENST00000649781.2:c.4047C>A	ENSP00000497203.1:p.Cys1349Ter
ENST00000685018.2:c.*443C>A	ENSP00000510194.2:n.*443C>A
ENST00000687278.2:c.*883C>A	ENSP00000509593.2:n.*883C>A
ENST00000699585.1:c.*439C>A	ENSP00000514456.1:n.*439C>A
ENST00000699598.1:c.4230C>A	ENSP00000514467.1:p.Cys1410Ter
ENST00000699599.1:c.*443C>A	ENSP00000514468.1:n.*443C>A
ENST00000699600.1:c.*891C>A	ENSP00000514469.1:n.*891C>A
ENST00000699601.1:c.*2605C>A	ENSP00000514470.1:n.*2605C>A
ENST00000699602.1:c.4224C>A	ENSP00000514471.1:p.Cys1408Ter
ENST00000699604.1:c.*4054C>A	ENSP00000514472.1:n.*4054C>A
ENST00000699605.1:c.3804C>A	ENSP00000514473.1:p.Cys1268Ter
ENST00000699606.1:n.2398C>A
ENST00000685018.1:c.1094C>A	ENSP00000510194.1:n.1094C>A
ENST00000687278.1:c.2017C>A	ENSP00000509593.1:n.2017C>A
ENST00000689011.1:c.812C>A
ENST00000003084.11:c.4230C>A MANE Select	ENSP00000003084.6:p.Cys1410Ter
ENST00000647720.1:c.1680C>A
ENST00000649781.1:c.4047C>A	ENSP00000497203.1:p.Cys1349Ter
ENST00000003084.10:c.4230C>A	ENSP00000003084.6:p.Cys1410Ter
ENST00000426809.5:c.4140C>A	ENSP00000389119.1:p.Cys1380Ter
ENST00000600166.1:c.356C>A
NM_000492.3:c.4230C>A , LRG_663t1:c.4230C>A	NP_000483.3:p.Cys1410Ter
XM_011515751.1:c.4320C>A	XP_011514053.1:p.Cys1440Ter
XM_011515752.1:c.4320C>A	XP_011514054.1:p.Cys1440Ter
XM_011515753.1:c.3987C>A	XP_011514055.1:p.Cys1329Ter
XM_011515754.1:c.3987C>A	XP_011514056.1:p.Cys1329Ter
NM_000492.4:c.4230C>A MANE Select	NP_000483.3:p.Cys1410Ter