Canonical Allele Identifier: CA326900

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53550
• ClinVar RCV Id: RCV000046665 ; RCV001009512 ; RCV003474549 ; RCV001826646 ; RCV002256032
• dbSNP Id: rs121909034
• MyVariant Identifiers: chr7:g.117243663C>A (hg19) ; chr7:g.117603609C>A (hg38)
• PubMed: PMID:7505693 ; PMID:23974870 ; PMID:25910067

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603609C>A , CM000669.2:g.117603609C>A	GRCh38
NC_000007.13:g.117243663C>A , CM000669.1:g.117243663C>A	GRCh37
NC_000007.12:g.117030899C>A	NCBI36
NG_016465.4:g.142826C>A , LRG_663:g.142826C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2735C>A	ENSP00000497673.2:p.Ser912Ter
ENST00000647978.2:c.*2449C>A	ENSP00000497658.1:n.*2449C>A
ENST00000649781.2:c.2552C>A	ENSP00000497203.1:p.Ser851Ter
ENST00000685018.2:c.2735C>A	ENSP00000510194.2:p.Ser912Ter
ENST00000687278.2:c.2735C>A	ENSP00000509593.2:p.Ser912Ter
ENST00000699585.1:c.2735C>A	ENSP00000514456.1:p.Ser912Ter
ENST00000699598.1:c.2735C>A	ENSP00000514467.1:p.Ser912Ter
ENST00000699599.1:c.2735C>A	ENSP00000514468.1:p.Ser912Ter
ENST00000699600.1:c.2735C>A	ENSP00000514469.1:p.Ser912Ter
ENST00000699601.1:c.*1035C>A	ENSP00000514470.1:n.*1035C>A
ENST00000699602.1:c.2735C>A	ENSP00000514471.1:p.Ser912Ter
ENST00000699604.1:c.*2559C>A	ENSP00000514472.1:n.*2559C>A
ENST00000699605.1:c.2309C>A	ENSP00000514473.1:p.Ser770Ter
ENST00000687278.1:c.326C>A	ENSP00000509593.1:p.Ser109Ter
ENST00000003084.11:c.2735C>A MANE Select	ENSP00000003084.6:p.Ser912Ter
ENST00000647720.1:c.385C>A
ENST00000648260.1:c.1517C>A	ENSP00000497957.1:p.Ser506Ter
ENST00000649406.1:c.2552C>A	ENSP00000497965.1:p.Ser851Ter
ENST00000649781.1:c.2552C>A	ENSP00000497203.1:p.Ser851Ter
ENST00000003084.10:c.2735C>A	ENSP00000003084.6:p.Ser912Ter
ENST00000426809.5:c.2645C>A	ENSP00000389119.1:p.Ser882Ter
NM_000492.3:c.2735C>A , LRG_663t1:c.2735C>A	NP_000483.3:p.Ser912Ter
XM_011515751.1:c.2825C>A	XP_011514053.1:p.Ser942Ter
XM_011515752.1:c.2825C>A	XP_011514054.1:p.Ser942Ter
XM_011515753.1:c.2492C>A	XP_011514055.1:p.Ser831Ter
XM_011515754.1:c.2492C>A	XP_011514056.1:p.Ser831Ter
NM_000492.4:c.2735C>A MANE Select	NP_000483.3:p.Ser912Ter