Canonical Allele Identifier: CA2684616542
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479615C>G , CM000669.2:g.117479615C>G GRCh38
NC_000007.13:g.117119669C>G , CM000669.1:g.117119669C>G GRCh37
NC_000007.12:g.116906905C>G NCBI36
NG_016465.4:g.18832C>G , LRG_663:g.18832C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-270C>G ENSP00000417012.1:n.-270C>G
ENST00000673785.1:c.-406+13784C>G ENSP00000501235.1:n.-406+13784C>G
ENST00000446805.1:c.-270C>G ENSP00000417012.1:n.-270C>G
ENST00000546407.1:n.166+3807C>G
XM_011515751.1:c.143+270C>G XP_011514053.1:n.143+270C>G
XM_011515752.1:c.143+270C>G XP_011514054.1:n.143+270C>G
XM_011515753.1:c.-270C>G XP_011514055.1:n.-270C>G
XM_011515754.1:c.-598C>G XP_011514056.1:n.-598C>G