Canonical Allele Identifier: CA2695199624

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2680716
• ClinVar RCV Id: RCV003475695

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592548_117592617del , CM000669.2:g.117592548_117592617del	GRCh38
NC_000007.13:g.117232602_117232671del , CM000669.1:g.117232602_117232671del	GRCh37
NC_000007.12:g.117019838_117019907del	NCBI36
NG_016465.4:g.131765_131834del , LRG_663:g.131765_131834del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2381_2450del	ENSP00000497673.2:p.Val794AlafsTer4
ENST00000647978.2:c.*2095_*2164del	ENSP00000497658.1:n.*2095_*2164del
ENST00000649781.2:c.2198_2267del	ENSP00000497203.1:p.Val733AlafsTer4
ENST00000685018.2:c.2381_2450del	ENSP00000510194.2:p.Val794AlafsTer4
ENST00000687278.2:c.2381_2450del	ENSP00000509593.2:p.Val794AlafsTer4
ENST00000699585.1:c.2381_2450del	ENSP00000514456.1:p.Val794AlafsTer4
ENST00000699598.1:c.2381_2450del	ENSP00000514467.1:p.Val794AlafsTer4
ENST00000699599.1:c.2381_2450del	ENSP00000514468.1:p.Val794AlafsTer4
ENST00000699600.1:c.2381_2450del	ENSP00000514469.1:p.Val794AlafsTer4
ENST00000699601.1:c.*681_*750del	ENSP00000514470.1:n.*681_*750del
ENST00000699602.1:c.2381_2450del	ENSP00000514471.1:p.Val794AlafsTer4
ENST00000699604.1:c.*2205_*2274del	ENSP00000514472.1:n.*2205_*2274del
ENST00000699605.1:c.1955_2024del	ENSP00000514473.1:p.Val652AlafsTer4
ENST00000003084.11:c.2381_2450del MANE Select	ENSP00000003084.6:p.Val794AlafsTer4
ENST00000647720.1:c.31_100del
ENST00000647978.1:c.*2095_*2164del	ENSP00000497658.1:n.*2095_*2164del
ENST00000648260.1:c.1402-10278_1402-10209del	ENSP00000497957.1:n.1402-10278_1402-10209...
ENST00000649406.1:c.2198_2267del	ENSP00000497965.1:p.Val733AlafsTer4
ENST00000649781.1:c.2198_2267del	ENSP00000497203.1:p.Val733AlafsTer4
ENST00000003084.10:c.2381_2450del	ENSP00000003084.6:p.Val794AlafsTer4
ENST00000426809.5:c.2291_2360del	ENSP00000389119.1:p.Val764AlafsTer4
NM_000492.3:c.2381_2450del , LRG_663t1:c.2381_2450del	NP_000483.3:p.Val794AlafsTer4
XM_011515751.1:c.2471_2540del	XP_011514053.1:p.Val824AlafsTer4
XM_011515752.1:c.2471_2540del	XP_011514054.1:p.Val824AlafsTer4
XM_011515753.1:c.2138_2207del	XP_011514055.1:p.Val713AlafsTer4
XM_011515754.1:c.2138_2207del	XP_011514056.1:p.Val713AlafsTer4
NM_000492.4:c.2381_2450del MANE Select	NP_000483.3:p.Val794AlafsTer4