Canonical Allele Identifier: CA339250

Gene: CFTR

Linked Data

• ClinVar Variation Id: 215752
• ClinVar RCV Id: RCV000200334 ; RCV000588931 ; RCV001163790
• dbSNP Id: rs117400534
• ExAC: 7:117282533 G / A
• gnomAD v2: 7-117282533-G-A
• gnomAD v3: 7-117642479-G-A
• gnomAD v4: 7-117642479-G-A
• MyVariant Identifiers: chr7:g.117282533G>A (hg19) ; chr7:g.117642479G>A (hg38)
• PubMed: PMID:17890437 ; PMID:23503723 ; PMID:25735457

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642479G>A , CM000669.2:g.117642479G>A	GRCh38
NC_000007.13:g.117282533G>A , CM000669.1:g.117282533G>A	GRCh37
NC_000007.12:g.117069769G>A	NCBI36
NG_016465.4:g.181696G>A , LRG_663:g.181696G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3559G>A	ENSP00000497673.2:p.Val1187Ile
ENST00000647978.2:c.*3473G>A	ENSP00000497658.1:n.*3473G>A
ENST00000649781.2:c.3576G>A	ENSP00000497203.1:p.Leu1192=
ENST00000685018.2:c.3759G>A	ENSP00000510194.2:p.Leu1253=
ENST00000687278.2:c.*412G>A	ENSP00000509593.2:n.*412G>A
ENST00000699585.1:c.3559G>A	ENSP00000514456.1:p.Val1187Ile
ENST00000699598.1:c.3759G>A	ENSP00000514467.1:p.Leu1253=
ENST00000699599.1:c.3759G>A	ENSP00000514468.1:p.Leu1253=
ENST00000699600.1:c.*420G>A	ENSP00000514469.1:n.*420G>A
ENST00000699601.1:c.*2134G>A	ENSP00000514470.1:n.*2134G>A
ENST00000699602.1:c.3753G>A	ENSP00000514471.1:p.Leu1251=
ENST00000699604.1:c.*3583G>A	ENSP00000514472.1:n.*3583G>A
ENST00000699605.1:c.3333G>A	ENSP00000514473.1:p.Leu1111=
ENST00000685018.1:c.507G>A	ENSP00000510194.1:p.Leu169=
ENST00000687278.1:c.1546G>A	ENSP00000509593.1:n.1546G>A
ENST00000689011.1:c.341G>A
ENST00000003084.11:c.3759G>A MANE Select	ENSP00000003084.6:p.Leu1253=
ENST00000647720.1:c.1209G>A
ENST00000649781.1:c.3576G>A	ENSP00000497203.1:p.Leu1192=
ENST00000003084.10:c.3759G>A	ENSP00000003084.6:p.Leu1253=
ENST00000426809.5:c.3669G>A	ENSP00000389119.1:p.Leu1223=
NM_000492.3:c.3759G>A , LRG_663t1:c.3759G>A	NP_000483.3:p.Leu1253=
XM_011515751.1:c.3849G>A	XP_011514053.1:p.Leu1283=
XM_011515752.1:c.3849G>A	XP_011514054.1:p.Leu1283=
XM_011515753.1:c.3516G>A	XP_011514055.1:p.Leu1172=
XM_011515754.1:c.3516G>A	XP_011514056.1:p.Leu1172=
NM_000492.4:c.3759G>A MANE Select	NP_000483.3:p.Leu1253=