Canonical Allele Identifier: CA221010

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53404
• ClinVar RCV Id: RCV000046494 ; RCV002490611 ; RCV003473470 ; RCV000790746 ; RCV001004276
• dbSNP Id: rs139468767
• ExAC: 7:117232074 T / C
• gnomAD v2: 7-117232074-T-C
• gnomAD v3: 7-117592020-T-C
• gnomAD v4: 7-117592020-T-C
• MyVariant Identifiers: chr7:g.117232074T>C (hg19) ; chr7:g.117592020T>C (hg38)
• PubMed: PMID:9150159 ; PMID:9736778 ; PMID:9822639 ; PMID:12020354 ; PMID:15025720 ; PMID:16049310 ; PMID:16442101 ; PMID:20849526 ; PMID:22950544 ; PMID:23082198 ; PMID:23758905 ; PMID:25735457

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592020T>C , CM000669.2:g.117592020T>C	GRCh38
NC_000007.13:g.117232074T>C , CM000669.1:g.117232074T>C	GRCh37
NC_000007.12:g.117019310T>C	NCBI36
NG_016465.4:g.131237T>C , LRG_663:g.131237T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1853T>C	ENSP00000497673.2:p.Ile618Thr
ENST00000647978.2:c.*1567T>C	ENSP00000497658.1:n.*1567T>C
ENST00000649781.2:c.1670T>C	ENSP00000497203.1:p.Ile557Thr
ENST00000685018.2:c.1853T>C	ENSP00000510194.2:p.Ile618Thr
ENST00000687278.2:c.1853T>C	ENSP00000509593.2:p.Ile618Thr
ENST00000699585.1:c.1853T>C	ENSP00000514456.1:p.Ile618Thr
ENST00000699598.1:c.1853T>C	ENSP00000514467.1:p.Ile618Thr
ENST00000699599.1:c.1853T>C	ENSP00000514468.1:p.Ile618Thr
ENST00000699600.1:c.1853T>C	ENSP00000514469.1:p.Ile618Thr
ENST00000699601.1:c.*153T>C	ENSP00000514470.1:n.*153T>C
ENST00000699602.1:c.1853T>C	ENSP00000514471.1:p.Ile618Thr
ENST00000699604.1:c.*1677T>C	ENSP00000514472.1:n.*1677T>C
ENST00000699605.1:c.1427T>C	ENSP00000514473.1:p.Ile476Thr
ENST00000003084.11:c.1853T>C MANE Select	ENSP00000003084.6:p.Ile618Thr
ENST00000647978.1:c.*1567T>C	ENSP00000497658.1:n.*1567T>C
ENST00000648260.1:c.1402-10806T>C	ENSP00000497957.1:n.1402-10806T>C
ENST00000649406.1:c.1670T>C	ENSP00000497965.1:p.Ile557Thr
ENST00000649781.1:c.1670T>C	ENSP00000497203.1:p.Ile557Thr
ENST00000003084.10:c.1853T>C	ENSP00000003084.6:p.Ile618Thr
ENST00000426809.5:c.1763T>C	ENSP00000389119.1:p.Ile588Thr
NM_000492.3:c.1853T>C , LRG_663t1:c.1853T>C	NP_000483.3:p.Ile618Thr
XM_011515751.1:c.1943T>C	XP_011514053.1:p.Ile648Thr
XM_011515752.1:c.1943T>C	XP_011514054.1:p.Ile648Thr
XM_011515753.1:c.1610T>C	XP_011514055.1:p.Ile537Thr
XM_011515754.1:c.1610T>C	XP_011514056.1:p.Ile537Thr
NM_000492.4:c.1853T>C MANE Select	NP_000483.3:p.Ile618Thr