Canonical Allele Identifier: CA913190192

Gene: CFTR

Linked Data

• ClinVar Variation Id: 634914
• ClinVar RCV Id: RCV000785770
• dbSNP Id: rs1562906265

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587740_117587834del , CM000669.2:g.117587740_117587834del	GRCh38
NC_000007.13:g.117227794_117227888del , CM000669.1:g.117227794_117227888del	GRCh37
NC_000007.12:g.117015030_117015124del	NCBI36
NG_016465.4:g.126957_127051del , LRG_663:g.126957_127051del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1586_1679+1del
ENST00000647978.2:c.*1300_*1393+1del
ENST00000649781.2:c.1403_1496+1del
ENST00000685018.2:c.1586_1679+1del
ENST00000687278.2:c.1586_1679+1del
ENST00000699585.1:c.1586_1679+1del
ENST00000699598.1:c.1586_1679+1del
ENST00000699599.1:c.1586_1679+1del
ENST00000699600.1:c.1586_1679+1del
ENST00000699601.1:c.1586_1679+1del
ENST00000699602.1:c.1586_1679+1del
ENST00000699604.1:c.*1410_*1503+1del
ENST00000699605.1:c.1160_1253+1del
ENST00000003084.11:c.1586_1679+1del
ENST00000647978.1:c.*1300_*1393+1del
ENST00000648260.1:c.1402-15086_1402-14992del	ENSP00000497957.1:n.1402-15086_1402-14992...
ENST00000649406.1:c.1403_1496+1del
ENST00000649781.1:c.1403_1496+1del
ENST00000003084.10:c.1586_1679+1del
ENST00000426809.5:c.1496_1589+1del
NM_000492.3:c.1586_1679+1del , LRG_663t1:c.1586_1679+1del
XM_011515751.1:c.1676_1769+1del
XM_011515752.1:c.1676_1769+1del
XM_011515753.1:c.1343_1436+1del
XM_011515754.1:c.1343_1436+1del
NM_000492.4:c.1586_1679+1del