Canonical Allele Identifier: CA577680762

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2584868
• ClinVar RCV Id: RCV003340768
• dbSNP Id: rs1284763505
• gnomAD v2: 7-117232091-AGCTATTTT-A
• gnomAD v4: 7-117592037-AGCTATTTT-A
• MyVariant Identifiers: chr7:g.117232092_117232099del (hg19) ; chr7:g.117592038_117592045del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592038_117592045del , CM000669.2:g.117592038_117592045del	GRCh38
NC_000007.13:g.117232092_117232099del , CM000669.1:g.117232092_117232099del	GRCh37
NC_000007.12:g.117019328_117019335del	NCBI36
NG_016465.4:g.131255_131262del , LRG_663:g.131255_131262del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1871_1878del	ENSP00000497673.2:p.Ser624IlefsTer15
ENST00000647978.2:c.*1585_*1592del	ENSP00000497658.1:n.*1585_*1592del
ENST00000649781.2:c.1688_1695del	ENSP00000497203.1:p.Ser563IlefsTer15
ENST00000685018.2:c.1871_1878del	ENSP00000510194.2:p.Ser624IlefsTer15
ENST00000687278.2:c.1871_1878del	ENSP00000509593.2:p.Ser624IlefsTer15
ENST00000699585.1:c.1871_1878del	ENSP00000514456.1:p.Ser624IlefsTer15
ENST00000699598.1:c.1871_1878del	ENSP00000514467.1:p.Ser624IlefsTer15
ENST00000699599.1:c.1871_1878del	ENSP00000514468.1:p.Ser624IlefsTer15
ENST00000699600.1:c.1871_1878del	ENSP00000514469.1:p.Ser624IlefsTer15
ENST00000699601.1:c.*171_*178del	ENSP00000514470.1:n.*171_*178del
ENST00000699602.1:c.1871_1878del	ENSP00000514471.1:p.Ser624IlefsTer15
ENST00000699604.1:c.*1695_*1702del	ENSP00000514472.1:n.*1695_*1702del
ENST00000699605.1:c.1445_1452del	ENSP00000514473.1:p.Ser482IlefsTer15
ENST00000003084.11:c.1871_1878del MANE Select	ENSP00000003084.6:p.Ser624IlefsTer15
ENST00000647978.1:c.*1585_*1592del	ENSP00000497658.1:n.*1585_*1592del
ENST00000648260.1:c.1402-10788_1402-10781del	ENSP00000497957.1:n.1402-10788_1402-10781...
ENST00000649406.1:c.1688_1695del	ENSP00000497965.1:p.Ser563IlefsTer15
ENST00000649781.1:c.1688_1695del	ENSP00000497203.1:p.Ser563IlefsTer15
ENST00000003084.10:c.1871_1878del	ENSP00000003084.6:p.Ser624IlefsTer15
ENST00000426809.5:c.1781_1788del	ENSP00000389119.1:p.Ser594IlefsTer15
NM_000492.3:c.1871_1878del , LRG_663t1:c.1871_1878del	NP_000483.3:p.Ser624IlefsTer15
XM_011515751.1:c.1961_1968del	XP_011514053.1:p.Ser654IlefsTer15
XM_011515752.1:c.1961_1968del	XP_011514054.1:p.Ser654IlefsTer15
XM_011515753.1:c.1628_1635del	XP_011514055.1:p.Ser543IlefsTer15
XM_011515754.1:c.1628_1635del	XP_011514056.1:p.Ser543IlefsTer15
NM_000492.4:c.1871_1878del MANE Select	NP_000483.3:p.Ser624IlefsTer15