Canonical Allele Identifier: CA915945465

Gene: CFTR

Linked Data

• ClinVar Variation Id: 818160
• ClinVar RCV Id: RCV001009544

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117500018_117504740dup , CM000669.2:g.117500018_117504740dup	GRCh38
NC_000007.13:g.117140072_117144794dup , CM000669.1:g.117140072_117144794dup	GRCh37
NC_000007.12:g.116927308_116932030dup	NCBI36
NG_016465.4:g.39235_43957dup , LRG_663:g.39235_43957dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.54-4235_164+377dup
ENST00000647978.2:c.54-4235_164+377dup
ENST00000649781.2:c.54-4235_164+377dup
ENST00000649850.2:c.54-4235_164+377dup
ENST00000685018.2:c.54-4235_164+377dup
ENST00000687278.2:c.54-4235_164+377dup
ENST00000693465.2:n.139-4235_249+377dup
ENST00000699585.1:c.54-4235_164+377dup
ENST00000699596.1:c.54-4235_164+377dup
ENST00000699597.1:c.54-4235_164+377dup
ENST00000699598.1:c.54-4235_164+377dup
ENST00000699599.1:c.54-4235_164+377dup
ENST00000699600.1:c.54-4235_164+377dup
ENST00000699601.1:c.54-4235_164+377dup
ENST00000699602.1:c.54-4235_164+377dup
ENST00000699604.1:c.54-4235_164+377dup
ENST00000699605.1:c.-190-4235_-80+377dup
ENST00000446805.2:c.-190-4235_-80+377dup
ENST00000693465.1:n.124-4235_234+377dup
ENST00000003084.11:c.54-4235_164+377dup
ENST00000647639.1:n.138-4235_248+377dup
ENST00000647978.1:c.54-4235_164+377dup
ENST00000648260.1:c.54-4235_164+377dup
ENST00000649406.1:c.54-4235_164+377dup
ENST00000649781.1:c.54-4235_164+377dup
ENST00000649850.1:n.137-4235_247+377dup
ENST00000673785.1:c.-405-3458_-80+377dup
ENST00000003084.10:c.54-4235_164+377dup
ENST00000426809.5:c.54-4235_164+377dup
ENST00000446805.1:c.-190-4235_-80+377dup
NM_000492.3:c.54-4235_164+377dup , LRG_663t1:c.54-4235_164+377dup
XM_011515751.1:c.144-4235_254+377dup
XM_011515752.1:c.144-4235_254+377dup
XM_011515753.1:c.-190-4235_-80+377dup
XM_011515754.1:c.-264-4235_-154+377dup
NM_000492.4:c.54-4235_164+377dup