Canonical Allele Identifier: CA340631
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 7111
dbSNP Id: rs74551128

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117548795C>A , CM000669.2:g.117548795C>A GRCh38
NC_000007.13:g.117188849C>A , CM000669.1:g.117188849C>A GRCh37
NC_000007.12:g.116976085C>A NCBI36
NG_016465.4:g.88012C>A , LRG_663:g.88012C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000003084.11:c.1364C>A MANE Select ENSP00000003084.6:p.Ala455Glu
ENST00000647978.1:c.*1106+6687C>A ENSP00000497658.1:p.=
ENST00000648260.1:c.1209+6687C>A ENSP00000497957.1:p.=
ENST00000649406.1:c.1209+6687C>A ENSP00000497965.1:p.=
ENST00000649781.1:n.1209+6687C>A ENSP00000497203.1:p.=
ENST00000003084.10:c.1364C>A ENSP00000003084.6:p.Ala455Glu
ENST00000426809.5:n.1274C>A ENSP00000389119.1:p.Ala425Glu
NM_000492.3:c.1364C>A , LRG_663t1:c.1364C>A NP_000483.3:p.Ala455Glu
XM_011515751.1:c.1454C>A XP_011514053.1:p.Ala485Glu
XM_011515752.1:c.1454C>A XP_011514054.1:p.Ala485Glu
XM_011515753.1:c.1121C>A XP_011514055.1:p.Ala374Glu
XM_011515754.1:c.1121C>A XP_011514056.1:p.Ala374Glu
NR_149084.1:n.222-6256G>T
NM_000492.4:c.1364C>A MANE Select NP_000483.3:p.Ala455Glu