Canonical Allele Identifier: CA325580

Gene: CFTR

Linked Data

• ClinVar Variation Id: 7192
• ClinVar RCV Id: RCV000007613 ; RCV001787320 ; RCV002247264
• dbSNP Id: rs121909041
• MyVariant Identifiers: chr7:g.117282537T>C (hg19) ; chr7:g.117642483T>C (hg38)
• PubMed: PMID:1284530 ; PMID:1382316 ; PMID:7504969 ; PMID:7543317 ; PMID:8477260 ; PMID:10923036 ; PMID:11242048 ; PMID:22293084 ; PMID:22992668 ; PMID:23974870 ; PMID:26708955

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642483T>C , CM000669.2:g.117642483T>C	GRCh38
NC_000007.13:g.117282537T>C , CM000669.1:g.117282537T>C	GRCh37
NC_000007.12:g.117069773T>C	NCBI36
NG_016465.4:g.181700T>C , LRG_663:g.181700T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3563T>C	ENSP00000497673.2:p.Ile1188Thr
ENST00000647978.2:c.*3477T>C	ENSP00000497658.1:n.*3477T>C
ENST00000649781.2:c.3580T>C	ENSP00000497203.1:p.Ser1194Pro
ENST00000685018.2:c.3763T>C	ENSP00000510194.2:p.Ser1255Pro
ENST00000687278.2:c.*416T>C	ENSP00000509593.2:n.*416T>C
ENST00000699585.1:c.3563T>C	ENSP00000514456.1:p.Ile1188Thr
ENST00000699598.1:c.3763T>C	ENSP00000514467.1:p.Ser1255Pro
ENST00000699599.1:c.3763T>C	ENSP00000514468.1:p.Ser1255Pro
ENST00000699600.1:c.*424T>C	ENSP00000514469.1:n.*424T>C
ENST00000699601.1:c.*2138T>C	ENSP00000514470.1:n.*2138T>C
ENST00000699602.1:c.3757T>C	ENSP00000514471.1:p.Ser1253Pro
ENST00000699604.1:c.*3587T>C	ENSP00000514472.1:n.*3587T>C
ENST00000699605.1:c.3337T>C	ENSP00000514473.1:p.Ser1113Pro
ENST00000685018.1:c.511T>C	ENSP00000510194.1:p.Ser171Pro
ENST00000687278.1:c.1550T>C	ENSP00000509593.1:n.1550T>C
ENST00000689011.1:c.345T>C
ENST00000003084.11:c.3763T>C MANE Select	ENSP00000003084.6:p.Ser1255Pro
ENST00000647720.1:c.1213T>C
ENST00000649781.1:c.3580T>C	ENSP00000497203.1:p.Ser1194Pro
ENST00000003084.10:c.3763T>C	ENSP00000003084.6:p.Ser1255Pro
ENST00000426809.5:c.3673T>C	ENSP00000389119.1:p.Ser1225Pro
NM_000492.3:c.3763T>C , LRG_663t1:c.3763T>C	NP_000483.3:p.Ser1255Pro
XM_011515751.1:c.3853T>C	XP_011514053.1:p.Ser1285Pro
XM_011515752.1:c.3853T>C	XP_011514054.1:p.Ser1285Pro
XM_011515753.1:c.3520T>C	XP_011514055.1:p.Ser1174Pro
XM_011515754.1:c.3520T>C	XP_011514056.1:p.Ser1174Pro
NM_000492.4:c.3763T>C MANE Select	NP_000483.3:p.Ser1255Pro