Canonical Allele Identifier: CA1737343628
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479032A= , CM000669.2:g.117479032A= GRCh38
NC_000007.13:g.117119086A= , CM000669.1:g.117119086A= GRCh37
NC_000007.12:g.116906322A= NCBI36
NG_016465.4:g.18249A= , LRG_663:g.18249A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-212A= ENSP00000417012.1:n.-525-212A=
ENST00000673785.1:c.-406+13201A= ENSP00000501235.1:n.-406+13201A=
ENST00000546407.1:n.166+3224A=
XM_011515751.1:c.42-212A= XP_011514053.1:n.42-212A=
XM_011515752.1:c.42-212A= XP_011514054.1:n.42-212A=
XM_011515754.1:c.-1065A= XP_011514056.1:n.-1065A=