Canonical Allele Identifier: CA1737344182
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479765T= , CM000669.2:g.117479765T= GRCh38
NC_000007.13:g.117119819T= , CM000669.1:g.117119819T= GRCh37
NC_000007.12:g.116907055T= NCBI36
NG_016465.4:g.18982T= , LRG_663:g.18982T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-191+71T= ENSP00000417012.1:n.-191+71T=
ENST00000673785.1:c.-406+13934T= ENSP00000501235.1:n.-406+13934T=
ENST00000446805.1:c.-191+71T= ENSP00000417012.1:n.-191+71T=
ENST00000546407.1:n.166+3957T=
XM_011515751.1:c.143+420T= XP_011514053.1:n.143+420T=
XM_011515752.1:c.143+420T= XP_011514054.1:n.143+420T=
XM_011515753.1:c.-191+71T= XP_011514055.1:n.-191+71T=
XM_011515754.1:c.-519+71T= XP_011514056.1:n.-519+71T=