Canonical Allele Identifier: CA16041132
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370078
ClinVar RCV Id: RCV000411517
dbSNP Id: rs1057516216

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592659T>C , CM000669.2:g.117592659T>C GRCh38
NC_000007.13:g.117232713T>C , CM000669.1:g.117232713T>C GRCh37
NC_000007.12:g.117019949T>C NCBI36
NG_016465.4:g.131876T>C , LRG_663:g.131876T>C

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.2490+2T>C , LRG_663t1:c.2490+2T>C NP_000483.3:p.=
XM_011515751.1:c.2580+2T>C XP_011514053.1:p.=
XM_011515752.1:c.2580+2T>C XP_011514054.1:p.=
XM_011515753.1:c.2247+2T>C XP_011514055.1:p.=
XM_011515754.1:c.2247+2T>C XP_011514056.1:p.=
ENST00000003084.10:c.2490+2T>C ENSP00000003084.6:p.=
ENST00000426809.5:n.2400+2T>C ENSP00000389119.1:p.=