Canonical Allele Identifier: CA326723

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53419
• ClinVar RCV Id: RCV000577201
• dbSNP Id: rs397508324
• MyVariant Identifiers: chr7:g.117232202del (hg19) ; chr7:g.117592148del (hg38)
• PubMed: PMID:9101301

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592148del , CM000669.2:g.117592148del	GRCh38
NC_000007.13:g.117232202del , CM000669.1:g.117232202del	GRCh37
NC_000007.12:g.117019438del	NCBI36
NG_016465.4:g.131365del , LRG_663:g.131365del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1981del	ENSP00000497673.2:p.Ile661SerfsTer2
ENST00000647978.2:c.*1695del	ENSP00000497658.1:n.*1695del
ENST00000649781.2:c.1798del	ENSP00000497203.1:p.Ile600SerfsTer2
ENST00000685018.2:c.1981del	ENSP00000510194.2:p.Ile661SerfsTer2
ENST00000687278.2:c.1981del	ENSP00000509593.2:p.Ile661SerfsTer2
ENST00000699585.1:c.1981del	ENSP00000514456.1:p.Ile661SerfsTer2
ENST00000699598.1:c.1981del	ENSP00000514467.1:p.Ile661SerfsTer2
ENST00000699599.1:c.1981del	ENSP00000514468.1:p.Ile661SerfsTer2
ENST00000699600.1:c.1981del	ENSP00000514469.1:p.Ile661SerfsTer2
ENST00000699601.1:c.*281del	ENSP00000514470.1:n.*281del
ENST00000699602.1:c.1981del	ENSP00000514471.1:p.Ile661SerfsTer2
ENST00000699604.1:c.*1805del	ENSP00000514472.1:n.*1805del
ENST00000699605.1:c.1555del	ENSP00000514473.1:p.Ile519SerfsTer2
ENST00000003084.11:c.1981del MANE Select	ENSP00000003084.6:p.Ile661SerfsTer2
ENST00000647978.1:c.*1695del	ENSP00000497658.1:n.*1695del
ENST00000648260.1:c.1402-10678del	ENSP00000497957.1:n.1402-10678del
ENST00000649406.1:c.1798del	ENSP00000497965.1:p.Ile600SerfsTer2
ENST00000649781.1:c.1798del	ENSP00000497203.1:p.Ile600SerfsTer2
ENST00000003084.10:c.1981del	ENSP00000003084.6:p.Ile661SerfsTer2
ENST00000426809.5:c.1891del	ENSP00000389119.1:p.Ile631SerfsTer2
NM_000492.3:c.1981del , LRG_663t1:c.1981del	NP_000483.3:p.Ile661SerfsTer2
XM_011515751.1:c.2071del	XP_011514053.1:p.Ile691SerfsTer2
XM_011515752.1:c.2071del	XP_011514054.1:p.Ile691SerfsTer2
XM_011515753.1:c.1738del	XP_011514055.1:p.Ile580SerfsTer2
XM_011515754.1:c.1738del	XP_011514056.1:p.Ile580SerfsTer2
NM_000492.4:c.1981del MANE Select	NP_000483.3:p.Ile661SerfsTer2