Canonical Allele Identifier: CA1737343612
Gene: CFTR HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478999T= , CM000669.2:g.117478999T= GRCh38
NC_000007.13:g.117119053T= , CM000669.1:g.117119053T= GRCh37
NC_000007.12:g.116906289T= NCBI36
NG_016465.4:g.18216T= , LRG_663:g.18216T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-245T= ENSP00000417012.1:n.-525-245T=
ENST00000673785.1:c.-406+13168T= ENSP00000501235.1:n.-406+13168T=
ENST00000546407.1:n.166+3191T=
XM_011515751.1:c.42-245T= XP_011514053.1:n.42-245T=
XM_011515752.1:c.42-245T= XP_011514054.1:n.42-245T=
XM_011515754.1:c.-1098T= XP_011514056.1:n.-1098T=
Search 100 bp 5'
Search 100 bp 3'