Canonical Allele Identifier: CA326862
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs397508406

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117595041del , CM000669.2:g.117595041del GRCh38
NC_000007.13:g.117235095del , CM000669.1:g.117235095del GRCh37
NC_000007.12:g.117022331del NCBI36
NG_016465.4:g.134258del , LRG_663:g.134258del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.2602del ENSP00000497673.2:p.Val868Ter
ENST00000647978.2:c.*2316del ENSP00000497658.1:n.*2316del
ENST00000649781.2:c.2419del ENSP00000497203.1:p.Val807Ter
ENST00000685018.2:c.2602del ENSP00000510194.2:p.Val868Ter
ENST00000687278.2:c.2602del ENSP00000509593.2:p.Val868Ter
ENST00000699585.1:c.2602del ENSP00000514456.1:p.Val868Ter
ENST00000699598.1:c.2602del ENSP00000514467.1:p.Val868Ter
ENST00000699599.1:c.2602del ENSP00000514468.1:p.Val868Ter
ENST00000699600.1:c.2602del ENSP00000514469.1:p.Val868Ter
ENST00000699601.1:c.*902del ENSP00000514470.1:n.*902del
ENST00000699602.1:c.2602del ENSP00000514471.1:p.Val868Ter
ENST00000699604.1:c.*2426del ENSP00000514472.1:n.*2426del
ENST00000699605.1:c.2176del ENSP00000514473.1:p.Val726Ter
ENST00000687278.1:c.193del ENSP00000509593.1:p.Val65Ter
ENST00000003084.11:c.2602del MANE Select ENSP00000003084.6:p.Val868Ter
ENST00000647720.1:c.252del
ENST00000648260.1:c.1402-7785del ENSP00000497957.1:n.1402-7785del
ENST00000649406.1:c.2419del ENSP00000497965.1:p.Val807Ter
ENST00000649781.1:c.2419del ENSP00000497203.1:p.Val807Ter
ENST00000003084.10:c.2602del ENSP00000003084.6:p.Val868Ter
ENST00000426809.5:c.2512del ENSP00000389119.1:p.Val838Ter
NM_000492.3:c.2602del , LRG_663t1:c.2602del NP_000483.3:p.Val868Ter
XM_011515751.1:c.2692del XP_011514053.1:p.Val898Ter
XM_011515752.1:c.2692del XP_011514054.1:p.Val898Ter
XM_011515753.1:c.2359del XP_011514055.1:p.Val787Ter
XM_011515754.1:c.2359del XP_011514056.1:p.Val787Ter
NM_000492.4:c.2602del MANE Select NP_000483.3:p.Val868Ter