Canonical Allele Identifier: CA1737343594
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478985C= , CM000669.2:g.117478985C= GRCh38
NC_000007.13:g.117119039C= , CM000669.1:g.117119039C= GRCh37
NC_000007.12:g.116906275C= NCBI36
NG_016465.4:g.18202C= , LRG_663:g.18202C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-259C= ENSP00000417012.1:n.-525-259C=
ENST00000673785.1:c.-406+13154C= ENSP00000501235.1:n.-406+13154C=
ENST00000546407.1:n.166+3177C=
XM_011515751.1:c.42-259C= XP_011514053.1:n.42-259C=
XM_011515752.1:c.42-259C= XP_011514054.1:n.42-259C=
XM_011515754.1:c.-1112C= XP_011514056.1:n.-1112C=