Canonical Allele Identifier: CA164961707

Gene: CFTR

Linked Data

• ClinVar Variation Id: 495950
• ClinVar RCV Id: RCV000588222 ; RCV001834851
• dbSNP Id: rs867990936
• gnomAD v4: 7-117666938-G-A
• COSMIC: COSM4405150
• MyVariant Identifiers: chr7:g.117306992G>A (hg19) ; chr7:g.117666938G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666938G>A , CM000669.2:g.117666938G>A	GRCh38
NC_000007.13:g.117306992G>A , CM000669.1:g.117306992G>A	GRCh37
NC_000007.12:g.117094228G>A	NCBI36
NG_016465.4:g.206155G>A , LRG_663:g.206155G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*482G>A	ENSP00000497673.2:n.*482G>A
ENST00000647978.2:c.*3987G>A	ENSP00000497658.1:n.*3987G>A
ENST00000649781.2:c.4090G>A	ENSP00000497203.1:p.Asp1364Asn
ENST00000685018.2:c.*486G>A	ENSP00000510194.2:n.*486G>A
ENST00000687278.2:c.*896-664G>A	ENSP00000509593.2:n.*896-664G>A
ENST00000699585.1:c.*742G>A	ENSP00000514456.1:n.*742G>A
ENST00000699598.1:c.4266G>A	ENSP00000514467.1:p.Thr1422=
ENST00000699599.1:c.*486G>A	ENSP00000514468.1:n.*486G>A
ENST00000699600.1:c.*904-664G>A	ENSP00000514469.1:n.*904-664G>A
ENST00000699601.1:c.*2648G>A	ENSP00000514470.1:n.*2648G>A
ENST00000699602.1:c.4267G>A	ENSP00000514471.1:p.Asp1423Asn
ENST00000699604.1:c.*4097G>A	ENSP00000514472.1:n.*4097G>A
ENST00000699605.1:c.3847G>A	ENSP00000514473.1:p.Asp1283Asn
ENST00000699606.1:n.3784G>A
ENST00000685018.1:c.1137G>A	ENSP00000510194.1:n.1137G>A
ENST00000687278.1:c.2030-664G>A	ENSP00000509593.1:n.2030-664G>A
ENST00000689011.1:c.1115G>A
ENST00000003084.11:c.4273G>A MANE Select	ENSP00000003084.6:p.Asp1425Asn
ENST00000647720.1:c.1723G>A
ENST00000649781.1:c.4090G>A	ENSP00000497203.1:p.Asp1364Asn
ENST00000003084.10:c.4273G>A	ENSP00000003084.6:p.Asp1425Asn
ENST00000426809.5:c.4183G>A	ENSP00000389119.1:p.Asp1395Asn
ENST00000600166.1:c.368+1374G>A
NM_000492.3:c.4273G>A , LRG_663t1:c.4273G>A	NP_000483.3:p.Asp1425Asn
XM_011515751.1:c.4363G>A	XP_011514053.1:p.Asp1455Asn
XM_011515753.1:c.4030G>A	XP_011514055.1:p.Asp1344Asn
XM_011515754.1:c.4030G>A	XP_011514056.1:p.Asp1344Asn
NM_000492.4:c.4273G>A MANE Select	NP_000483.3:p.Asp1425Asn