Canonical Allele Identifier: CA1737344062
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479613T= , CM000669.2:g.117479613T= GRCh38
NC_000007.13:g.117119667T= , CM000669.1:g.117119667T= GRCh37
NC_000007.12:g.116906903T= NCBI36
NG_016465.4:g.18830T= , LRG_663:g.18830T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-272T= ENSP00000417012.1:n.-272T=
ENST00000673785.1:c.-406+13782T= ENSP00000501235.1:n.-406+13782T=
ENST00000446805.1:c.-272T= ENSP00000417012.1:n.-272T=
ENST00000546407.1:n.166+3805T=
XM_011515751.1:c.143+268T= XP_011514053.1:n.143+268T=
XM_011515752.1:c.143+268T= XP_011514054.1:n.143+268T=
XM_011515753.1:c.-272T= XP_011514055.1:n.-272T=
XM_011515754.1:c.-600T= XP_011514056.1:n.-600T=