Canonical Allele Identifier: CA1737344032
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 1745194
ClinVar RCV Id: RCV002335870
dbSNP Id: rs1797959934

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479588A>G , CM000669.2:g.117479588A>G GRCh38
NC_000007.13:g.117119642A>G , CM000669.1:g.117119642A>G GRCh37
NC_000007.12:g.116906878A>G NCBI36
NG_016465.4:g.18805A>G , LRG_663:g.18805A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-297A>G ENSP00000417012.1:n.-297A>G
ENST00000673785.1:c.-406+13757A>G ENSP00000501235.1:n.-406+13757A>G
ENST00000446805.1:c.-297A>G ENSP00000417012.1:n.-297A>G
ENST00000546407.1:n.166+3780A>G
XM_011515751.1:c.143+243A>G XP_011514053.1:n.143+243A>G
XM_011515752.1:c.143+243A>G XP_011514054.1:n.143+243A>G
XM_011515753.1:c.-297A>G XP_011514055.1:n.-297A>G
XM_011515754.1:c.-625A>G XP_011514056.1:n.-625A>G