Canonical Allele Identifier: CA4451662

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1738699
• ClinVar RCV Id: RCV002327910
• dbSNP Id: rs780396890
• ExAC: 7:117305584 G / A
• gnomAD v2: 7-117305584-G-A
• gnomAD v3: 7-117665530-G-A
• gnomAD v4: 7-117665530-G-A
• MyVariant Identifiers: chr7:g.117305584G>A (hg19) ; chr7:g.117665530G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665530G>A , CM000669.2:g.117665530G>A	GRCh38
NC_000007.13:g.117305584G>A , CM000669.1:g.117305584G>A	GRCh37
NC_000007.12:g.117092820G>A	NCBI36
NG_016465.4:g.204747G>A , LRG_663:g.204747G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*417G>A	ENSP00000497673.2:n.*417G>A
ENST00000647978.2:c.*3922G>A	ENSP00000497658.1:n.*3922G>A
ENST00000649781.2:c.4025G>A	ENSP00000497203.1:p.Arg1342Lys
ENST00000685018.2:c.*421G>A	ENSP00000510194.2:n.*421G>A
ENST00000687278.2:c.*861G>A	ENSP00000509593.2:n.*861G>A
ENST00000699585.1:c.*417G>A	ENSP00000514456.1:n.*417G>A
ENST00000699598.1:c.4208G>A	ENSP00000514467.1:p.Arg1403Lys
ENST00000699599.1:c.*421G>A	ENSP00000514468.1:n.*421G>A
ENST00000699600.1:c.*869G>A	ENSP00000514469.1:n.*869G>A
ENST00000699601.1:c.*2583G>A	ENSP00000514470.1:n.*2583G>A
ENST00000699602.1:c.4202G>A	ENSP00000514471.1:p.Arg1401Lys
ENST00000699604.1:c.*4032G>A	ENSP00000514472.1:n.*4032G>A
ENST00000699605.1:c.3782G>A	ENSP00000514473.1:p.Arg1261Lys
ENST00000699606.1:n.2376G>A
ENST00000685018.1:c.1072G>A	ENSP00000510194.1:n.1072G>A
ENST00000687278.1:c.1995G>A	ENSP00000509593.1:n.1995G>A
ENST00000689011.1:c.790G>A
ENST00000003084.11:c.4208G>A MANE Select	ENSP00000003084.6:p.Arg1403Lys
ENST00000647720.1:c.1658G>A
ENST00000649781.1:c.4025G>A	ENSP00000497203.1:p.Arg1342Lys
ENST00000003084.10:c.4208G>A	ENSP00000003084.6:p.Arg1403Lys
ENST00000426809.5:c.4118G>A	ENSP00000389119.1:p.Arg1373Lys
ENST00000600166.1:c.334G>A
NM_000492.3:c.4208G>A , LRG_663t1:c.4208G>A	NP_000483.3:p.Arg1403Lys
XM_011515751.1:c.4298G>A	XP_011514053.1:p.Arg1433Lys
XM_011515752.1:c.4298G>A	XP_011514054.1:p.Arg1433Lys
XM_011515753.1:c.3965G>A	XP_011514055.1:p.Arg1322Lys
XM_011515754.1:c.3965G>A	XP_011514056.1:p.Arg1322Lys
NM_000492.4:c.4208G>A MANE Select	NP_000483.3:p.Arg1403Lys