Canonical Allele Identifier: CA175546

Gene: CFTR

Linked Data

• ClinVar Variation Id: 93154
• ClinVar RCV Id: RCV000150339 ; RCV000590053 ; RCV001007581 ; RCV001158876 ; RCV002257405
• dbSNP Id: rs1800131
• ExAC: 7:117292919 A / G
• gnomAD v2: 7-117292919-A-G
• gnomAD v3: 7-117652865-A-G
• gnomAD v4: 7-117652865-A-G
• MyVariant Identifiers: chr7:g.117292919A>G (hg19) ; chr7:g.117652865A>G (hg38)
• PubMed: PMID:1379210 ; PMID:7535742 ; PMID:9921909 ; PMID:10746558 ; PMID:10875853 ; PMID:11788091 ; PMID:15536480 ; PMID:15681482 ; PMID:16251901 ; PMID:17580535 ; PMID:17890437 ; PMID:18687795 ; PMID:23378595 ; PMID:23503723 ; PMID:23687349 ; PMID:23891399 ; PMID:26436105 ; PMID:26911355 ; PMID:28456595 ; PMID:28536625

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652865A>G , CM000669.2:g.117652865A>G	GRCh38
NC_000007.13:g.117292919A>G , CM000669.1:g.117292919A>G	GRCh37
NC_000007.12:g.117080155A>G	NCBI36
NG_016465.4:g.192082A>G , LRG_663:g.192082A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*106A>G	ENSP00000497673.2:n.*106A>G
ENST00000647978.2:c.*3611A>G	ENSP00000497658.1:n.*3611A>G
ENST00000649781.2:c.3714A>G	ENSP00000497203.1:p.Thr1238=
ENST00000685018.2:c.*110A>G	ENSP00000510194.2:n.*110A>G
ENST00000687278.2:c.*550A>G	ENSP00000509593.2:n.*550A>G
ENST00000699585.1:c.*106A>G	ENSP00000514456.1:n.*106A>G
ENST00000699598.1:c.3897A>G	ENSP00000514467.1:p.Thr1299=
ENST00000699599.1:c.*110A>G	ENSP00000514468.1:n.*110A>G
ENST00000699600.1:c.*558A>G	ENSP00000514469.1:n.*558A>G
ENST00000699601.1:c.*2272A>G	ENSP00000514470.1:n.*2272A>G
ENST00000699602.1:c.3891A>G	ENSP00000514471.1:p.Thr1297=
ENST00000699604.1:c.*3721A>G	ENSP00000514472.1:n.*3721A>G
ENST00000699605.1:c.3471A>G	ENSP00000514473.1:p.Thr1157=
ENST00000699606.1:n.2065A>G
ENST00000685018.1:c.761A>G	ENSP00000510194.1:n.761A>G
ENST00000687278.1:c.1684A>G	ENSP00000509593.1:n.1684A>G
ENST00000689011.1:c.479A>G
ENST00000003084.11:c.3897A>G MANE Select	ENSP00000003084.6:p.Thr1299=
ENST00000647720.1:c.1347A>G
ENST00000649781.1:c.3714A>G	ENSP00000497203.1:p.Thr1238=
ENST00000003084.10:c.3897A>G	ENSP00000003084.6:p.Thr1299=
ENST00000426809.5:c.3807A>G	ENSP00000389119.1:p.Thr1269=
ENST00000600166.1:c.23A>G
NM_000492.3:c.3897A>G , LRG_663t1:c.3897A>G	NP_000483.3:p.Thr1299=
XM_011515751.1:c.3987A>G	XP_011514053.1:p.Thr1329=
XM_011515752.1:c.3987A>G	XP_011514054.1:p.Thr1329=
XM_011515753.1:c.3654A>G	XP_011514055.1:p.Thr1218=
XM_011515754.1:c.3654A>G	XP_011514056.1:p.Thr1218=
NM_000492.4:c.3897A>G MANE Select	NP_000483.3:p.Thr1299=