Canonical Allele Identifier: CA340634
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 7120
dbSNP Id: rs75527207

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117587806G>A , CM000669.2:g.117587806G>A GRCh38
NC_000007.13:g.117227860G>A , CM000669.1:g.117227860G>A GRCh37
NC_000007.12:g.117015096G>A NCBI36
NG_016465.4:g.127023G>A , LRG_663:g.127023G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000003084.11:c.1652G>A MANE Select ENSP00000003084.6:p.Gly551Asp
ENST00000647978.1:c.*1366G>A ENSP00000497658.1:p.=
ENST00000648260.1:c.1402-15020G>A ENSP00000497957.1:p.=
ENST00000649406.1:c.1469G>A ENSP00000497965.1:p.Gly490Asp
ENST00000649781.1:n.1469G>A ENSP00000497203.1:p.Gly490Asp
ENST00000003084.10:c.1652G>A ENSP00000003084.6:p.Gly551Asp
ENST00000426809.5:n.1562G>A ENSP00000389119.1:p.Gly521Asp
NM_000492.3:c.1652G>A , LRG_663t1:c.1652G>A NP_000483.3:p.Gly551Asp
XM_011515751.1:c.1742G>A XP_011514053.1:p.Gly581Asp
XM_011515752.1:c.1742G>A XP_011514054.1:p.Gly581Asp
XM_011515753.1:c.1409G>A XP_011514055.1:p.Gly470Asp
XM_011515754.1:c.1409G>A XP_011514056.1:p.Gly470Asp
NM_000492.4:c.1652G>A MANE Select NP_000483.3:p.Gly551Asp