Canonical Allele Identifier: CA2684619856
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117614519A>G , CM000669.2:g.117614519A>G GRCh38
NC_000007.13:g.117254573A>G , CM000669.1:g.117254573A>G GRCh37
NC_000007.12:g.117041809A>G NCBI36
NG_016465.4:g.153736A>G , LRG_663:g.153736A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3368-94A>G ENSP00000497673.2:n.3368-94A>G
ENST00000647978.2:c.*3082-94A>G ENSP00000497658.1:n.*3082-94A>G
ENST00000649781.2:c.3185-94A>G ENSP00000497203.1:n.3185-94A>G
ENST00000685018.2:c.3368-94A>G ENSP00000510194.2:n.3368-94A>G
ENST00000687278.2:c.3368-94A>G ENSP00000509593.2:n.3368-94A>G
ENST00000699585.1:c.3368-94A>G ENSP00000514456.1:n.3368-94A>G
ENST00000699598.1:c.3368-94A>G ENSP00000514467.1:n.3368-94A>G
ENST00000699599.1:c.3368-94A>G ENSP00000514468.1:n.3368-94A>G
ENST00000699600.1:c.3368-94A>G ENSP00000514469.1:n.3368-94A>G
ENST00000699601.1:c.*1668-19A>G ENSP00000514470.1:n.*1668-19A>G
ENST00000699602.1:c.3368-100A>G ENSP00000514471.1:n.3368-100A>G
ENST00000699604.1:c.*3192-94A>G ENSP00000514472.1:n.*3192-94A>G
ENST00000699605.1:c.2942-94A>G ENSP00000514473.1:n.2942-94A>G
ENST00000685018.1:c.116-94A>G ENSP00000510194.1:n.116-94A>G
ENST00000687278.1:c.959-94A>G ENSP00000509593.1:n.959-94A>G
ENST00000003084.11:c.3368-94A>G MANE Select ENSP00000003084.6:n.3368-94A>G
ENST00000647720.1:c.1018-94A>G
ENST00000648260.1:c.2150-94A>G ENSP00000497957.1:n.2150-94A>G
ENST00000649406.1:c.3185-94A>G ENSP00000497965.1:n.3185-94A>G
ENST00000649781.1:c.3185-94A>G ENSP00000497203.1:n.3185-94A>G
ENST00000003084.10:c.3368-94A>G ENSP00000003084.6:n.3368-94A>G
ENST00000426809.5:c.3278-94A>G ENSP00000389119.1:n.3278-94A>G
ENST00000468795.1:c.193-94A>G
NM_000492.3:c.3368-94A>G , LRG_663t1:c.3368-94A>G NP_000483.3:n.3368-94A>G
XM_011515751.1:c.3458-94A>G XP_011514053.1:n.3458-94A>G
XM_011515752.1:c.3458-94A>G XP_011514054.1:n.3458-94A>G
XM_011515753.1:c.3125-94A>G XP_011514055.1:n.3125-94A>G
XM_011515754.1:c.3125-94A>G XP_011514056.1:n.3125-94A>G
NM_000492.4:c.3368-94A>G MANE Select NP_000483.3:n.3368-94A>G