Canonical Allele Identifier: CA146706

Gene: CFTR

Linked Data

• ClinVar Variation Id: 93157
• ClinVar RCV Id: RCV000079007 ; RCV000353586 ; RCV001095184 ; RCV001811359 ; RCV002256041
• dbSNP Id: rs1800136
• ExAC: 7:117307108 G / A
• gnomAD v2: 7-117307108-G-A
• gnomAD v3: 7-117667054-G-A
• gnomAD v4: 7-117667054-G-A
• MyVariant Identifiers: chr7:g.117307108G>A (hg19) ; chr7:g.117667054G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667054G>A , CM000669.2:g.117667054G>A	GRCh38
NC_000007.13:g.117307108G>A , CM000669.1:g.117307108G>A	GRCh37
NC_000007.12:g.117094344G>A	NCBI36
NG_016465.4:g.206271G>A , LRG_663:g.206271G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*598G>A	ENSP00000497673.2:n.*598G>A
ENST00000647978.2:c.*4103G>A	ENSP00000497658.1:n.*4103G>A
ENST00000649781.2:c.4206G>A	ENSP00000497203.1:p.Gln1402=
ENST00000685018.2:c.*602G>A	ENSP00000510194.2:n.*602G>A
ENST00000687278.2:c.*896-548G>A	ENSP00000509593.2:n.*896-548G>A
ENST00000699585.1:c.*858G>A	ENSP00000514456.1:n.*858G>A
ENST00000699598.1:c.*95G>A	ENSP00000514467.1:n.*95G>A
ENST00000699599.1:c.*602G>A	ENSP00000514468.1:n.*602G>A
ENST00000699600.1:c.*904-548G>A	ENSP00000514469.1:n.*904-548G>A
ENST00000699601.1:c.*2764G>A	ENSP00000514470.1:n.*2764G>A
ENST00000699602.1:c.4383G>A	ENSP00000514471.1:p.Gln1461=
ENST00000699604.1:c.*4213G>A	ENSP00000514472.1:n.*4213G>A
ENST00000699605.1:c.3963G>A	ENSP00000514473.1:p.Gln1321=
ENST00000699606.1:n.3900G>A
ENST00000685018.1:c.1253G>A	ENSP00000510194.1:n.1253G>A
ENST00000687278.1:c.2030-548G>A	ENSP00000509593.1:n.2030-548G>A
ENST00000689011.1:c.1231G>A
ENST00000003084.11:c.4389G>A MANE Select	ENSP00000003084.6:p.Gln1463=
ENST00000647720.1:c.1839G>A
ENST00000649781.1:c.4206G>A	ENSP00000497203.1:p.Gln1402=
ENST00000003084.10:c.4389G>A	ENSP00000003084.6:p.Gln1463=
ENST00000426809.5:c.4299G>A	ENSP00000389119.1:p.Gln1433=
ENST00000600166.1:c.368+1490G>A
NM_000492.3:c.4389G>A , LRG_663t1:c.4389G>A	NP_000483.3:p.Gln1463=
XM_011515751.1:c.4479G>A	XP_011514053.1:p.Gln1493=
XM_011515753.1:c.4146G>A	XP_011514055.1:p.Gln1382=
XM_011515754.1:c.4146G>A	XP_011514056.1:p.Gln1382=
NM_000492.4:c.4389G>A MANE Select	NP_000483.3:p.Gln1463=