Canonical Allele Identifier: CA1737343602
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478987C= , CM000669.2:g.117478987C= GRCh38
NC_000007.13:g.117119041C= , CM000669.1:g.117119041C= GRCh37
NC_000007.12:g.116906277C= NCBI36
NG_016465.4:g.18204C= , LRG_663:g.18204C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-257C= ENSP00000417012.1:n.-525-257C=
ENST00000673785.1:c.-406+13156C= ENSP00000501235.1:n.-406+13156C=
ENST00000546407.1:n.166+3179C=
XM_011515751.1:c.42-257C= XP_011514053.1:n.42-257C=
XM_011515752.1:c.42-257C= XP_011514054.1:n.42-257C=
XM_011515754.1:c.-1110C= XP_011514056.1:n.-1110C=