Canonical Allele Identifier: CA326468
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53243
ClinVar RCV Id: RCV000046291
dbSNP Id: rs397508201

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117559462A>G , CM000669.2:g.117559462A>G GRCh38
NC_000007.13:g.117199516A>G , CM000669.1:g.117199516A>G GRCh37
NC_000007.12:g.116986752A>G NCBI36
NG_016465.4:g.98679A>G , LRG_663:g.98679A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000003084.11:c.1393-2A>G MANE Select ENSP00000003084.6:p.=
ENST00000647978.1:c.*1107-2A>G ENSP00000497658.1:p.=
ENST00000648260.1:c.1210-2A>G ENSP00000497957.1:p.=
ENST00000649406.1:c.1210-2A>G ENSP00000497965.1:p.=
ENST00000649781.1:n.1210-2A>G ENSP00000497203.1:p.=
ENST00000003084.10:c.1393-2A>G ENSP00000003084.6:p.=
ENST00000426809.5:n.1303-2A>G ENSP00000389119.1:p.=
NM_000492.3:c.1393-2A>G , LRG_663t1:c.1393-2A>G NP_000483.3:p.=
XM_011515751.1:c.1483-2A>G XP_011514053.1:p.=
XM_011515752.1:c.1483-2A>G XP_011514054.1:p.=
XM_011515753.1:c.1150-2A>G XP_011514055.1:p.=
XM_011515754.1:c.1150-2A>G XP_011514056.1:p.=
NR_149084.1:n.221+1271T>C
NM_000492.4:c.1393-2A>G MANE Select NP_000483.3:p.=