Canonical Allele Identifier: CA2684616518
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479569T>G , CM000669.2:g.117479569T>G GRCh38
NC_000007.13:g.117119623T>G , CM000669.1:g.117119623T>G GRCh37
NC_000007.12:g.116906859T>G NCBI36
NG_016465.4:g.18786T>G , LRG_663:g.18786T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-316T>G ENSP00000417012.1:n.-316T>G
ENST00000673785.1:c.-406+13738T>G ENSP00000501235.1:n.-406+13738T>G
ENST00000446805.1:c.-316T>G ENSP00000417012.1:n.-316T>G
ENST00000546407.1:n.166+3761T>G
XM_011515751.1:c.143+224T>G XP_011514053.1:n.143+224T>G
XM_011515752.1:c.143+224T>G XP_011514054.1:n.143+224T>G
XM_011515753.1:c.-316T>G XP_011514055.1:n.-316T>G
XM_011515754.1:c.-644T>G XP_011514056.1:n.-644T>G