Canonical Allele Identifier: CA2499218685

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1275739
• ClinVar RCV Id: RCV001682618

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117602152_117612040del , CM000669.2:g.117602152_117612040del	GRCh38
NC_000007.13:g.117242206_117252094del , CM000669.1:g.117242206_117252094del	GRCh37
NC_000007.12:g.117029442_117039330del	NCBI36
NG_016465.4:g.141369_151257del , LRG_663:g.141369_151257del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2620-674_3367+232del
ENST00000647978.2:c.*2334-674_*3081+232del
ENST00000649781.2:c.2437-674_3184+232del
ENST00000685018.2:c.2620-674_3367+232del
ENST00000687278.2:c.2620-674_3367+232del
ENST00000699585.1:c.2620-674_3367+232del
ENST00000699598.1:c.2620-674_3367+232del
ENST00000699599.1:c.2620-674_3367+232del
ENST00000699600.1:c.2620-674_3367+232del
ENST00000699601.1:c.*920-674_*1667+232del
ENST00000699602.1:c.2620-674_3367+232del
ENST00000699604.1:c.*2444-674_*3191+232del
ENST00000699605.1:c.2194-674_2941+232del
ENST00000687278.1:c.211-674_958+232del
ENST00000003084.11:c.2620-674_3367+232del
ENST00000647720.1:c.270-674_1017+232del
ENST00000648260.1:c.1402-674_2149+232del
ENST00000649406.1:c.2437-674_3184+232del
ENST00000649781.1:c.2437-674_3184+232del
ENST00000003084.10:c.2620-674_3367+232del
ENST00000426809.5:c.2530-674_3277+232del
NM_000492.3:c.2620-674_3367+232del , LRG_663t1:c.2620-674_3367+232del
XM_011515751.1:c.2710-674_3457+232del
XM_011515752.1:c.2710-674_3457+232del
XM_011515753.1:c.2377-674_3124+232del
XM_011515754.1:c.2377-674_3124+232del
NM_000492.4:c.2620-674_3367+232del