Canonical Allele Identifier: CA2499218698

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1065980
• ClinVar RCV Id: RCV001376841
• dbSNP Id: rs2116166586

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642433_117642445del , CM000669.2:g.117642433_117642445del	GRCh38
NC_000007.13:g.117282487_117282499del , CM000669.1:g.117282487_117282499del	GRCh37
NC_000007.12:g.117069723_117069735del	NCBI36
NG_016465.4:g.181650_181662del , LRG_663:g.181650_181662del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3518-5_3525del
ENST00000647978.2:c.*3432-5_*3439del
ENST00000649781.2:c.3535-5_3542del
ENST00000685018.2:c.3718-5_3725del
ENST00000687278.2:c.*371-5_*378del
ENST00000699585.1:c.3518-5_3525del
ENST00000699598.1:c.3718-5_3725del
ENST00000699599.1:c.3718-5_3725del
ENST00000699600.1:c.*379-5_*386del
ENST00000699601.1:c.*2093-5_*2100del
ENST00000699602.1:c.3712-5_3719del
ENST00000699604.1:c.*3542-5_*3549del
ENST00000699605.1:c.3292-5_3299del
ENST00000685018.1:c.466-5_473del
ENST00000687278.1:c.1505-5_1512del
ENST00000689011.1:c.300-5_307del
ENST00000003084.11:c.3718-5_3725del
ENST00000647720.1:c.1168-5_1175del
ENST00000649781.1:c.3535-5_3542del
ENST00000003084.10:c.3718-5_3725del
ENST00000426809.5:c.3628-5_3635del
NM_000492.3:c.3718-5_3725del , LRG_663t1:c.3718-5_3725del
XM_011515751.1:c.3808-5_3815del
XM_011515752.1:c.3808-5_3815del
XM_011515753.1:c.3475-5_3482del
XM_011515754.1:c.3475-5_3482del
NM_000492.4:c.3718-5_3725del