Canonical Allele Identifier: CA164948699
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 439059
dbSNP Id: rs145483167

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479930G>A , CM000669.2:g.117479930G>A GRCh38
NC_000007.13:g.117119984G>A , CM000669.1:g.117119984G>A GRCh37
NC_000007.12:g.116907220G>A NCBI36
NG_016465.4:g.19147G>A , LRG_663:g.19147G>A

Transcript Alleles

HGVS Amino-acid change
XM_011515751.1:c.143+585G>A XP_011514053.1:p.=
XM_011515752.1:c.143+585G>A XP_011514054.1:p.=
XM_011515753.1:c.-191+236G>A XP_011514055.1:p.=
XM_011515754.1:c.-518-218G>A XP_011514056.1:p.=
ENST00000446805.1:c.-191+236G>A ENSP00000417012.1:p.=
ENST00000546407.1:n.166+4122G>A