Canonical Allele Identifier: CA913189830

Gene: CFTR

Linked Data

• ClinVar Variation Id: 634910
• ClinVar RCV Id: RCV000785766

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610519_117611808del , CM000669.2:g.117610519_117611808del	GRCh38
NC_000007.13:g.117250573_117251862del , CM000669.1:g.117250573_117251862del	GRCh37
NC_000007.12:g.117037809_117039098del	NCBI36
NG_016465.4:g.149736_151025del , LRG_663:g.149736_151025del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2989_3367del
ENST00000647978.2:c.*2703_*3081del
ENST00000649781.2:c.2806_3184del
ENST00000685018.2:c.2989_3367del
ENST00000687278.2:c.2989_3367del
ENST00000699585.1:c.2989_3367del
ENST00000699598.1:c.2989_3367del
ENST00000699599.1:c.2989_3367del
ENST00000699600.1:c.2989_3367del
ENST00000699601.1:c.*1289_*1667del
ENST00000699602.1:c.2989_3367del
ENST00000699604.1:c.*2813_*3191del
ENST00000699605.1:c.2563_2941del
ENST00000687278.1:c.580_958del
ENST00000003084.11:c.2989_3367del
ENST00000647720.1:c.639_1017del
ENST00000648260.1:c.1771_2149del
ENST00000649406.1:c.2806_3184del
ENST00000649781.1:c.2806_3184del
ENST00000003084.10:c.2989_3367del
ENST00000426809.5:c.2899_3277del
NM_000492.3:c.2989_3367del , LRG_663t1:c.2989_3367del
XM_011515751.1:c.3079_3457del
XM_011515752.1:c.3079_3457del
XM_011515753.1:c.2746_3124del
XM_011515754.1:c.2746_3124del
NM_000492.4:c.2989_3367del