Canonical Allele Identifier: CA1737343964
Gene: CFTR HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479511T= , CM000669.2:g.117479511T= GRCh38
NC_000007.13:g.117119565T= , CM000669.1:g.117119565T= GRCh37
NC_000007.12:g.116906801T= NCBI36
NG_016465.4:g.18728T= , LRG_663:g.18728T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-374T= ENSP00000417012.1:n.-374T=
ENST00000673785.1:c.-406+13680T= ENSP00000501235.1:n.-406+13680T=
ENST00000446805.1:c.-374T= ENSP00000417012.1:n.-374T=
ENST00000546407.1:n.166+3703T=
XM_011515751.1:c.143+166T= XP_011514053.1:n.143+166T=
XM_011515752.1:c.143+166T= XP_011514054.1:n.143+166T=
XM_011515753.1:c.-374T= XP_011514055.1:n.-374T=
XM_011515754.1:c.-702T= XP_011514056.1:n.-702T=
Search 100 bp 5'
Search 100 bp 3'