Canonical Allele Identifier: CA16041125
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371527
ClinVar RCV Id: RCV000411442
dbSNP Id: rs1057517342

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117535407_117535410dup , CM000669.2:g.117535407_117535410dup GRCh38
NC_000007.13:g.117175461_117175464dup , CM000669.1:g.117175461_117175464dup GRCh37
NC_000007.12:g.116962697_116962700dup NCBI36
NG_016465.4:g.74624_74627dup , LRG_663:g.74624_74627dup

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.739_742dup , LRG_663t1:c.739_742dup NP_000483.3:p.Arg248IlefsTer11
XM_011515751.1:c.829_832dup XP_011514053.1:p.Arg278IlefsTer11
XM_011515752.1:c.829_832dup XP_011514054.1:p.Arg278IlefsTer11
XM_011515753.1:c.496_499dup XP_011514055.1:p.Arg167IlefsTer11
XM_011515754.1:c.496_499dup XP_011514056.1:p.Arg167IlefsTer11
ENST00000003084.10:c.739_742dup ENSP00000003084.6:p.Arg248IlefsTer11
ENST00000426809.5:n.649_652dup ENSP00000389119.1:p.Arg218IlefsTer11