Canonical Allele Identifier: CA325527
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 7127
dbSNP Id: rs267606722

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117594977G>A , CM000669.2:g.117594977G>A GRCh38
NC_000007.13:g.117235031G>A , CM000669.1:g.117235031G>A GRCh37
NC_000007.12:g.117022267G>A NCBI36
NG_016465.4:g.134194G>A , LRG_663:g.134194G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000003084.11:c.2538G>A MANE Select ENSP00000003084.6:p.Trp846Ter
ENST00000647720.1:n.188G>A
ENST00000647978.1:c.*2252G>A ENSP00000497658.1:p.=
ENST00000648260.1:c.1402-7849G>A ENSP00000497957.1:p.=
ENST00000649406.1:c.2355G>A ENSP00000497965.1:p.Trp785Ter
ENST00000649781.1:n.2355G>A ENSP00000497203.1:p.Trp785Ter
ENST00000003084.10:c.2538G>A ENSP00000003084.6:p.Trp846Ter
ENST00000426809.5:n.2448G>A ENSP00000389119.1:p.Trp816Ter
NM_000492.3:c.2538G>A , LRG_663t1:c.2538G>A NP_000483.3:p.Trp846Ter
XM_011515751.1:c.2628G>A XP_011514053.1:p.Trp876Ter
XM_011515752.1:c.2628G>A XP_011514054.1:p.Trp876Ter
XM_011515753.1:c.2295G>A XP_011514055.1:p.Trp765Ter
XM_011515754.1:c.2295G>A XP_011514056.1:p.Trp765Ter
NM_000492.4:c.2538G>A MANE Select NP_000483.3:p.Trp846Ter