Canonical Allele Identifier: CA16041138
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 371605
ClinVar RCV Id: RCV000412356
dbSNP Id: rs1057517404

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117642571_117642572dup , CM000669.2:g.117642571_117642572dup GRCh38
NC_000007.13:g.117282625_117282626dup , CM000669.1:g.117282625_117282626dup GRCh37
NC_000007.12:g.117069861_117069862dup NCBI36
NG_016465.4:g.181788_181789dup , LRG_663:g.181788_181789dup

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.*60_*61dup ENSP00000497673.2:n.*60_*61dup
ENST00000647978.2:c.*3565_*3566dup ENSP00000497658.1:n.*3565_*3566dup
ENST00000649781.2:c.3668_3669dup ENSP00000497203.1:p.Ala1224LysfsTer5
ENST00000685018.2:c.3851_3852dup ENSP00000510194.2:p.Ala1285LysfsTer5
ENST00000687278.2:c.*504_*505dup ENSP00000509593.2:n.*504_*505dup
ENST00000699585.1:c.*60_*61dup ENSP00000514456.1:n.*60_*61dup
ENST00000699598.1:c.3851_3852dup ENSP00000514467.1:p.Ala1285LysfsTer5
ENST00000699599.1:c.3851_3852dup ENSP00000514468.1:p.Ala1285LysfsTer5
ENST00000699600.1:c.*512_*513dup ENSP00000514469.1:n.*512_*513dup
ENST00000699601.1:c.*2226_*2227dup ENSP00000514470.1:n.*2226_*2227dup
ENST00000699602.1:c.3845_3846dup ENSP00000514471.1:p.Ala1283LysfsTer5
ENST00000699604.1:c.*3675_*3676dup ENSP00000514472.1:n.*3675_*3676dup
ENST00000699605.1:c.3425_3426dup ENSP00000514473.1:p.Ala1143LysfsTer5
ENST00000685018.1:c.599_600dup ENSP00000510194.1:p.Ala201LysfsTer5
ENST00000687278.1:c.1638_1639dup ENSP00000509593.1:n.1638_1639dup
ENST00000689011.1:c.433_434dup
ENST00000003084.11:c.3851_3852dup MANE Select ENSP00000003084.6:p.Ala1285LysfsTer5
ENST00000647720.1:c.1301_1302dup
ENST00000649781.1:c.3668_3669dup ENSP00000497203.1:p.Ala1224LysfsTer5
ENST00000003084.10:c.3851_3852dup ENSP00000003084.6:p.Ala1285LysfsTer5
ENST00000426809.5:c.3761_3762dup ENSP00000389119.1:p.Ala1255LysfsTer5
NM_000492.3:c.3851_3852dup , LRG_663t1:c.3851_3852dup NP_000483.3:p.Ala1285LysfsTer5
XM_011515751.1:c.3941_3942dup XP_011514053.1:p.Ala1315LysfsTer5
XM_011515752.1:c.3941_3942dup XP_011514054.1:p.Ala1315LysfsTer5
XM_011515753.1:c.3608_3609dup XP_011514055.1:p.Ala1204LysfsTer5
XM_011515754.1:c.3608_3609dup XP_011514056.1:p.Ala1204LysfsTer5
NM_000492.4:c.3851_3852dup MANE Select NP_000483.3:p.Ala1285LysfsTer5