Canonical Allele Identifier: CA2739279266

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2866826
• ClinVar RCV Id: RCV003617632

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117542070_117542114del , CM000669.2:g.117542070_117542114del	GRCh38
NC_000007.13:g.117182124_117182168del , CM000669.1:g.117182124_117182168del	GRCh37
NC_000007.12:g.116969360_116969404del	NCBI36
NG_016465.4:g.81287_81331del , LRG_663:g.81287_81331del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1171_1209+6del
ENST00000647978.2:c.*1068_*1106+6del
ENST00000649781.2:c.1171_1209+6del
ENST00000685018.2:c.1171_1209+6del
ENST00000687278.2:c.1171_1209+6del
ENST00000699585.1:c.1171_1209+6del
ENST00000699596.1:c.1171_1209+6del
ENST00000699597.1:c.1171_1209+6del
ENST00000699598.1:c.1171_1209+6del
ENST00000699599.1:c.1171_1209+6del
ENST00000699600.1:c.1171_1209+6del
ENST00000699601.1:c.1171_1209+6del
ENST00000699602.1:c.1171_1209+6del
ENST00000699604.1:c.*995_*1033+6del
ENST00000699605.1:c.928_966+6del
ENST00000003084.11:c.1171_1209+6del
ENST00000647978.1:c.*1068_*1106+6del
ENST00000648260.1:c.1171_1209+6del
ENST00000649406.1:c.1171_1209+6del
ENST00000649781.1:c.1171_1209+6del
ENST00000673785.1:c.928_966+6del
ENST00000003084.10:c.1171_1209+6del
ENST00000426809.5:c.1081_1119+6del
NM_000492.3:c.1171_1209+6del , LRG_663t1:c.1171_1209+6del
XM_011515751.1:c.1261_1299+6del
XM_011515752.1:c.1261_1299+6del
XM_011515753.1:c.928_966+6del
XM_011515754.1:c.928_966+6del
NM_000492.4:c.1171_1209+6del