Canonical Allele Identifier: CA913190200

Gene: CFTR

Linked Data

• ClinVar Variation Id: 634909
• ClinVar RCV Id: RCV000785765

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606676_117611810del , CM000669.2:g.117606676_117611810del	GRCh38
NC_000007.13:g.117246730_117251864del , CM000669.1:g.117246730_117251864del	GRCh37
NC_000007.12:g.117033966_117039100del	NCBI36
NG_016465.4:g.145893_151027del , LRG_663:g.145893_151027del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2911_3367+2del
ENST00000647978.2:c.*2625_*3081+2del
ENST00000649781.2:c.2728_3184+2del
ENST00000685018.2:c.2911_3367+2del
ENST00000687278.2:c.2911_3367+2del
ENST00000699585.1:c.2911_3367+2del
ENST00000699598.1:c.2911_3367+2del
ENST00000699599.1:c.2911_3367+2del
ENST00000699600.1:c.2911_3367+2del
ENST00000699601.1:c.*1211_*1667+2del
ENST00000699602.1:c.2911_3367+2del
ENST00000699604.1:c.*2735_*3191+2del
ENST00000699605.1:c.2485_2941+2del
ENST00000687278.1:c.502_958+2del
ENST00000003084.11:c.2911_3367+2del
ENST00000647720.1:c.561_1017+2del
ENST00000648260.1:c.1693_2149+2del
ENST00000649406.1:c.2728_3184+2del
ENST00000649781.1:c.2728_3184+2del
ENST00000003084.10:c.2911_3367+2del
ENST00000426809.5:c.2821_3277+2del
NM_000492.3:c.2911_3367+2del , LRG_663t1:c.2911_3367+2del
XM_011515751.1:c.3001_3457+2del
XM_011515752.1:c.3001_3457+2del
XM_011515753.1:c.2668_3124+2del
XM_011515754.1:c.2668_3124+2del
NM_000492.4:c.2911_3367+2del