Canonical Allele Identifier: CA10628077
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 358746
dbSNP Id: rs10234329

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117668151A>C , CM000669.2:g.117668151A>C GRCh38
NC_000007.13:g.117308205A>C , CM000669.1:g.117308205A>C GRCh37
NC_000007.12:g.117095441A>C NCBI36
NG_016465.4:g.207368A>C , LRG_663:g.207368A>C

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.*1043A>C , LRG_663t1:c.*1043A>C NP_000483.3:p.=
XM_011515751.1:c.*1043A>C XP_011514053.1:p.=
XM_011515753.1:c.*1043A>C XP_011514055.1:p.=
XM_011515754.1:c.*1043A>C XP_011514056.1:p.=
ENST00000003084.10:c.*1043A>C ENSP00000003084.6:p.=
ENST00000600166.1:n.368+2587A>C