Canonical Allele Identifier: CA2684616529
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479587G>T , CM000669.2:g.117479587G>T GRCh38
NC_000007.13:g.117119641G>T , CM000669.1:g.117119641G>T GRCh37
NC_000007.12:g.116906877G>T NCBI36
NG_016465.4:g.18804G>T , LRG_663:g.18804G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-298G>T ENSP00000417012.1:n.-298G>T
ENST00000673785.1:c.-406+13756G>T ENSP00000501235.1:n.-406+13756G>T
ENST00000446805.1:c.-298G>T ENSP00000417012.1:n.-298G>T
ENST00000546407.1:n.166+3779G>T
XM_011515751.1:c.143+242G>T XP_011514053.1:n.143+242G>T
XM_011515752.1:c.143+242G>T XP_011514054.1:n.143+242G>T
XM_011515753.1:c.-298G>T XP_011514055.1:n.-298G>T
XM_011515754.1:c.-626G>T XP_011514056.1:n.-626G>T