Canonical Allele Identifier: CA327467
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs397508704

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117666907G>C , CM000669.2:g.117666907G>C GRCh38
NC_000007.13:g.117306961G>C , CM000669.1:g.117306961G>C GRCh37
NC_000007.12:g.117094197G>C NCBI36
NG_016465.4:g.206124G>C , LRG_663:g.206124G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.*452-1G>C ENSP00000497673.2:n.*452-1G>C
ENST00000647978.2:c.*3957-1G>C ENSP00000497658.1:n.*3957-1G>C
ENST00000649781.2:c.4060-1G>C ENSP00000497203.1:n.4060-1G>C
ENST00000685018.2:c.*456-1G>C ENSP00000510194.2:n.*456-1G>C
ENST00000687278.2:c.*896-695G>C ENSP00000509593.2:n.*896-695G>C
ENST00000699585.1:c.*711G>C ENSP00000514456.1:n.*711G>C
ENST00000699598.1:c.4243-8G>C ENSP00000514467.1:n.4243-8G>C
ENST00000699599.1:c.*456-1G>C ENSP00000514468.1:n.*456-1G>C
ENST00000699600.1:c.*904-695G>C ENSP00000514469.1:n.*904-695G>C
ENST00000699601.1:c.*2618-1G>C ENSP00000514470.1:n.*2618-1G>C
ENST00000699602.1:c.4237-1G>C ENSP00000514471.1:n.4237-1G>C
ENST00000699604.1:c.*4067-1G>C ENSP00000514472.1:n.*4067-1G>C
ENST00000699605.1:c.3817-1G>C ENSP00000514473.1:n.3817-1G>C
ENST00000699606.1:n.3753G>C
ENST00000685018.1:c.1107-1G>C ENSP00000510194.1:n.1107-1G>C
ENST00000687278.1:c.2030-695G>C ENSP00000509593.1:n.2030-695G>C
ENST00000689011.1:c.1084G>C
ENST00000003084.11:c.4243-1G>C MANE Select ENSP00000003084.6:n.4243-1G>C
ENST00000647720.1:c.1693-1G>C
ENST00000649781.1:c.4060-1G>C ENSP00000497203.1:n.4060-1G>C
ENST00000003084.10:c.4243-1G>C ENSP00000003084.6:n.4243-1G>C
ENST00000426809.5:c.4153-1G>C ENSP00000389119.1:n.4153-1G>C
ENST00000600166.1:c.368+1343G>C
NM_000492.3:c.4243-1G>C , LRG_663t1:c.4243-1G>C NP_000483.3:n.4243-1G>C
XM_011515751.1:c.4333-1G>C XP_011514053.1:n.4333-1G>C
XM_011515753.1:c.4000-1G>C XP_011514055.1:n.4000-1G>C
XM_011515754.1:c.4000-1G>C XP_011514056.1:n.4000-1G>C
NM_000492.4:c.4243-1G>C MANE Select NP_000483.3:n.4243-1G>C