Canonical Allele Identifier: CA1737344017
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479562A= , CM000669.2:g.117479562A= GRCh38
NC_000007.13:g.117119616A= , CM000669.1:g.117119616A= GRCh37
NC_000007.12:g.116906852A= NCBI36
NG_016465.4:g.18779A= , LRG_663:g.18779A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-323A= ENSP00000417012.1:n.-323A=
ENST00000673785.1:c.-406+13731A= ENSP00000501235.1:n.-406+13731A=
ENST00000446805.1:c.-323A= ENSP00000417012.1:n.-323A=
ENST00000546407.1:n.166+3754A=
XM_011515751.1:c.143+217A= XP_011514053.1:n.143+217A=
XM_011515752.1:c.143+217A= XP_011514054.1:n.143+217A=
XM_011515753.1:c.-323A= XP_011514055.1:n.-323A=
XM_011515754.1:c.-651A= XP_011514056.1:n.-651A=