Canonical Allele Identifier: CA327280
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53805
ClinVar RCV Id: RCV000046973 RCV001004506 RCV001826672
dbSNP Id: rs397508604
gnomAD v4: 7-117642481-T-G
MyVariant Identifiers: chr7:g.117282535T>G (hg19) chr7:g.117642481T>G (hg38)
PubMed: PMID:8680406 PMID:9067754 PMID:9259197 PMID:17331079 PMID:20059485 PMID:23974870
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117642481T>G , CM000669.2:g.117642481T>G GRCh38
NC_000007.13:g.117282535T>G , CM000669.1:g.117282535T>G GRCh37
NC_000007.12:g.117069771T>G NCBI36
NG_016465.4:g.181698T>G , LRG_663:g.181698T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3561T>G ENSP00000497673.2:p.Val1187=
ENST00000647978.2:c.*3475T>G ENSP00000497658.1:n.*3475T>G
ENST00000649781.2:c.3578T>G ENSP00000497203.1:p.Leu1193Ter
ENST00000685018.2:c.3761T>G ENSP00000510194.2:p.Leu1254Ter
ENST00000687278.2:c.*414T>G ENSP00000509593.2:n.*414T>G
ENST00000699585.1:c.3561T>G ENSP00000514456.1:p.Val1187=
ENST00000699598.1:c.3761T>G ENSP00000514467.1:p.Leu1254Ter
ENST00000699599.1:c.3761T>G ENSP00000514468.1:p.Leu1254Ter
ENST00000699600.1:c.*422T>G ENSP00000514469.1:n.*422T>G
ENST00000699601.1:c.*2136T>G ENSP00000514470.1:n.*2136T>G
ENST00000699602.1:c.3755T>G ENSP00000514471.1:p.Leu1252Ter
ENST00000699604.1:c.*3585T>G ENSP00000514472.1:n.*3585T>G
ENST00000699605.1:c.3335T>G ENSP00000514473.1:p.Leu1112Ter
ENST00000685018.1:c.509T>G ENSP00000510194.1:p.Leu170Ter
ENST00000687278.1:c.1548T>G ENSP00000509593.1:n.1548T>G
ENST00000689011.1:c.343T>G
ENST00000003084.11:c.3761T>G MANE Select ENSP00000003084.6:p.Leu1254Ter
ENST00000647720.1:c.1211T>G
ENST00000649781.1:c.3578T>G ENSP00000497203.1:p.Leu1193Ter
ENST00000003084.10:c.3761T>G ENSP00000003084.6:p.Leu1254Ter
ENST00000426809.5:c.3671T>G ENSP00000389119.1:p.Leu1224Ter
NM_000492.3:c.3761T>G , LRG_663t1:c.3761T>G NP_000483.3:p.Leu1254Ter
XM_011515751.1:c.3851T>G XP_011514053.1:p.Leu1284Ter
XM_011515752.1:c.3851T>G XP_011514054.1:p.Leu1284Ter
XM_011515753.1:c.3518T>G XP_011514055.1:p.Leu1173Ter
XM_011515754.1:c.3518T>G XP_011514056.1:p.Leu1173Ter
NM_000492.4:c.3761T>G MANE Select NP_000483.3:p.Leu1254Ter
Search 100 bp 5'
Search 100 bp 3'