Canonical Allele Identifier: CA1737344009
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1797957539

Genomic Alleles

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

Transcript Alleles

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