Canonical Allele Identifier: CA2684616510
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 3076097
ClinVar RCV Id: RCV004018414

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479559C>G , CM000669.2:g.117479559C>G GRCh38
NC_000007.13:g.117119613C>G , CM000669.1:g.117119613C>G GRCh37
NC_000007.12:g.116906849C>G NCBI36
NG_016465.4:g.18776C>G , LRG_663:g.18776C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-326C>G ENSP00000417012.1:n.-326C>G
ENST00000673785.1:c.-406+13728C>G ENSP00000501235.1:n.-406+13728C>G
ENST00000446805.1:c.-326C>G ENSP00000417012.1:n.-326C>G
ENST00000546407.1:n.166+3751C>G
XM_011515751.1:c.143+214C>G XP_011514053.1:n.143+214C>G
XM_011515752.1:c.143+214C>G XP_011514054.1:n.143+214C>G
XM_011515753.1:c.-326C>G XP_011514055.1:n.-326C>G
XM_011515754.1:c.-654C>G XP_011514056.1:n.-654C>G