Canonical Allele Identifier: CA327378

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53872
• ClinVar RCV Id: RCV000047055 ; RCV000781251 ; RCV003474598 ; RCV002228162
• dbSNP Id: rs397508658
• gnomAD v4: 7-117664728-T-C
• MyVariant Identifiers: chr7:g.117304782T>C (hg19) ; chr7:g.117664728T>C (hg38)
• PubMed: PMID:12815607 ; PMID:20059485 ; PMID:20163773 ; PMID:22658665 ; PMID:23276700 ; PMID:25489051

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664728T>C , CM000669.2:g.117664728T>C	GRCh38
NC_000007.13:g.117304782T>C , CM000669.1:g.117304782T>C	GRCh37
NC_000007.12:g.117092018T>C	NCBI36
NG_016465.4:g.203945T>C , LRG_663:g.203945T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*213T>C	ENSP00000497673.2:n.*213T>C
ENST00000647978.2:c.*3718T>C	ENSP00000497658.1:n.*3718T>C
ENST00000649781.2:c.3821T>C	ENSP00000497203.1:p.Leu1274Pro
ENST00000685018.2:c.*217T>C	ENSP00000510194.2:n.*217T>C
ENST00000687278.2:c.*657T>C	ENSP00000509593.2:n.*657T>C
ENST00000699585.1:c.*213T>C	ENSP00000514456.1:n.*213T>C
ENST00000699598.1:c.4004T>C	ENSP00000514467.1:p.Leu1335Pro
ENST00000699599.1:c.*217T>C	ENSP00000514468.1:n.*217T>C
ENST00000699600.1:c.*665T>C	ENSP00000514469.1:n.*665T>C
ENST00000699601.1:c.*2379T>C	ENSP00000514470.1:n.*2379T>C
ENST00000699602.1:c.3998T>C	ENSP00000514471.1:p.Leu1333Pro
ENST00000699604.1:c.*3828T>C	ENSP00000514472.1:n.*3828T>C
ENST00000699605.1:c.3578T>C	ENSP00000514473.1:p.Leu1193Pro
ENST00000699606.1:n.2172T>C
ENST00000685018.1:c.868T>C	ENSP00000510194.1:n.868T>C
ENST00000687278.1:c.1791T>C	ENSP00000509593.1:n.1791T>C
ENST00000689011.1:c.586T>C
ENST00000003084.11:c.4004T>C MANE Select	ENSP00000003084.6:p.Leu1335Pro
ENST00000647720.1:c.1454T>C
ENST00000649781.1:c.3821T>C	ENSP00000497203.1:p.Leu1274Pro
ENST00000003084.10:c.4004T>C	ENSP00000003084.6:p.Leu1335Pro
ENST00000426809.5:c.3914T>C	ENSP00000389119.1:p.Leu1305Pro
ENST00000600166.1:c.130T>C
NM_000492.3:c.4004T>C , LRG_663t1:c.4004T>C	NP_000483.3:p.Leu1335Pro
XM_011515751.1:c.4094T>C	XP_011514053.1:p.Leu1365Pro
XM_011515752.1:c.4094T>C	XP_011514054.1:p.Leu1365Pro
XM_011515753.1:c.3761T>C	XP_011514055.1:p.Leu1254Pro
XM_011515754.1:c.3761T>C	XP_011514056.1:p.Leu1254Pro
NM_000492.4:c.4004T>C MANE Select	NP_000483.3:p.Leu1335Pro