Canonical Allele Identifier: CA326663
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 48685
dbSNP Id: rs121908796

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117590444G>T , CM000669.2:g.117590444G>T GRCh38
NC_000007.13:g.117230498G>T , CM000669.1:g.117230498G>T GRCh37
NC_000007.12:g.117017734G>T NCBI36
NG_016465.4:g.129661G>T , LRG_663:g.129661G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000003084.11:c.1766+5G>T MANE Select ENSP00000003084.6:p.=
ENST00000647978.1:c.*1480+5G>T ENSP00000497658.1:p.=
ENST00000648260.1:c.1402-12382G>T ENSP00000497957.1:p.=
ENST00000649406.1:c.1583+5G>T ENSP00000497965.1:p.=
ENST00000649781.1:n.1583+5G>T ENSP00000497203.1:p.=
ENST00000003084.10:c.1766+5G>T ENSP00000003084.6:p.=
ENST00000426809.5:n.1676+5G>T ENSP00000389119.1:p.=
NM_000492.3:c.1766+5G>T , LRG_663t1:c.1766+5G>T NP_000483.3:p.=
XM_011515751.1:c.1856+5G>T XP_011514053.1:p.=
XM_011515752.1:c.1856+5G>T XP_011514054.1:p.=
XM_011515753.1:c.1523+5G>T XP_011514055.1:p.=
XM_011515754.1:c.1523+5G>T XP_011514056.1:p.=
NM_000492.4:c.1766+5G>T MANE Select NP_000483.3:p.=