Canonical Allele Identifier: CA328133
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 48708
dbSNP Id: rs79031340

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117540218G>T , CM000669.2:g.117540218G>T GRCh38
NC_000007.13:g.117180272G>T , CM000669.1:g.117180272G>T GRCh37
NC_000007.12:g.116967508G>T NCBI36
NG_016465.4:g.79435G>T , LRG_663:g.79435G>T

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.988G>T , LRG_663t1:c.988G>T NP_000483.3:p.Gly330Ter
XM_011515751.1:c.1078G>T XP_011514053.1:p.Gly360Ter
XM_011515752.1:c.1078G>T XP_011514054.1:p.Gly360Ter
XM_011515753.1:c.745G>T XP_011514055.1:p.Gly249Ter
XM_011515754.1:c.745G>T XP_011514056.1:p.Gly249Ter
ENST00000003084.10:c.988G>T ENSP00000003084.6:p.Gly330Ter
ENST00000426809.5:n.898G>T ENSP00000389119.1:p.Gly300Ter