Canonical Allele Identifier: CA4451611

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1018890
• ClinVar RCV Id: RCV001318253 ; RCV001830312
• dbSNP Id: rs773458471
• ExAC: 7:117304806 G / A
• gnomAD v2: 7-117304806-G-A
• gnomAD v4: 7-117664752-G-A
• MyVariant Identifiers: chr7:g.117304806G>A (hg19) ; chr7:g.117664752G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664752G>A , CM000669.2:g.117664752G>A	GRCh38
NC_000007.13:g.117304806G>A , CM000669.1:g.117304806G>A	GRCh37
NC_000007.12:g.117092042G>A	NCBI36
NG_016465.4:g.203969G>A , LRG_663:g.203969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*237G>A	ENSP00000497673.2:n.*237G>A
ENST00000647978.2:c.*3742G>A	ENSP00000497658.1:n.*3742G>A
ENST00000649781.2:c.3845G>A	ENSP00000497203.1:p.Gly1282Asp
ENST00000685018.2:c.*241G>A	ENSP00000510194.2:n.*241G>A
ENST00000687278.2:c.*681G>A	ENSP00000509593.2:n.*681G>A
ENST00000699585.1:c.*237G>A	ENSP00000514456.1:n.*237G>A
ENST00000699598.1:c.4028G>A	ENSP00000514467.1:p.Gly1343Asp
ENST00000699599.1:c.*241G>A	ENSP00000514468.1:n.*241G>A
ENST00000699600.1:c.*689G>A	ENSP00000514469.1:n.*689G>A
ENST00000699601.1:c.*2403G>A	ENSP00000514470.1:n.*2403G>A
ENST00000699602.1:c.4022G>A	ENSP00000514471.1:p.Gly1341Asp
ENST00000699604.1:c.*3852G>A	ENSP00000514472.1:n.*3852G>A
ENST00000699605.1:c.3602G>A	ENSP00000514473.1:p.Gly1201Asp
ENST00000699606.1:n.2196G>A
ENST00000685018.1:c.892G>A	ENSP00000510194.1:n.892G>A
ENST00000687278.1:c.1815G>A	ENSP00000509593.1:n.1815G>A
ENST00000689011.1:c.610G>A
ENST00000003084.11:c.4028G>A MANE Select	ENSP00000003084.6:p.Gly1343Asp
ENST00000647720.1:c.1478G>A
ENST00000649781.1:c.3845G>A	ENSP00000497203.1:p.Gly1282Asp
ENST00000003084.10:c.4028G>A	ENSP00000003084.6:p.Gly1343Asp
ENST00000426809.5:c.3938G>A	ENSP00000389119.1:p.Gly1313Asp
ENST00000600166.1:c.154G>A
NM_000492.3:c.4028G>A , LRG_663t1:c.4028G>A	NP_000483.3:p.Gly1343Asp
XM_011515751.1:c.4118G>A	XP_011514053.1:p.Gly1373Asp
XM_011515752.1:c.4118G>A	XP_011514054.1:p.Gly1373Asp
XM_011515753.1:c.3785G>A	XP_011514055.1:p.Gly1262Asp
XM_011515754.1:c.3785G>A	XP_011514056.1:p.Gly1262Asp
NM_000492.4:c.4028G>A MANE Select	NP_000483.3:p.Gly1343Asp