Canonical Allele Identifier: CA913189834

Gene: CFTR

Linked Data

• ClinVar Variation Id: 634915
• ClinVar RCV Id: RCV000785771

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611582_117614714del , CM000669.2:g.117611582_117614714del	GRCh38
NC_000007.13:g.117251636_117254768del , CM000669.1:g.117251636_117254768del	GRCh37
NC_000007.12:g.117038872_117042004del	NCBI36
NG_016465.4:g.150799_153931del , LRG_663:g.150799_153931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3141_3468+1del
ENST00000647978.2:c.*2855_*3182+1del
ENST00000649781.2:c.2958_3285+1del
ENST00000685018.2:c.3141_3468+1del
ENST00000687278.2:c.3141_3468+1del
ENST00000699585.1:c.3141_3468+1del
ENST00000699598.1:c.3141_3468+1del
ENST00000699599.1:c.3141_3468+1del
ENST00000699600.1:c.3141_3468+1del
ENST00000699601.1:c.*1441_*1843+1del
ENST00000699602.1:c.3141_3462+1del
ENST00000699604.1:c.*2965_*3292+1del
ENST00000699605.1:c.2715_3042+1del
ENST00000687278.1:c.732_1059+1del
ENST00000003084.11:c.3141_3468+1del
ENST00000647720.1:c.791_1118+1del
ENST00000648260.1:c.1923_2250+1del
ENST00000649406.1:c.2958_3285+1del
ENST00000649781.1:c.2958_3285+1del
ENST00000003084.10:c.3141_3468+1del
ENST00000426809.5:c.3051_3378+1del
NM_000492.3:c.3141_3468+1del , LRG_663t1:c.3141_3468+1del
XM_011515751.1:c.3231_3558+1del
XM_011515752.1:c.3231_3558+1del
XM_011515753.1:c.2898_3225+1del
XM_011515754.1:c.2898_3225+1del
NM_000492.4:c.3141_3468+1del