Canonical Allele Identifier: CA1737344036
Gene: CFTR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479590C= , CM000669.2:g.117479590C= GRCh38
NC_000007.13:g.117119644C= , CM000669.1:g.117119644C= GRCh37
NC_000007.12:g.116906880C= NCBI36
NG_016465.4:g.18807C= , LRG_663:g.18807C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-295C= ENSP00000417012.1:n.-295C=
ENST00000673785.1:c.-406+13759C= ENSP00000501235.1:n.-406+13759C=
ENST00000446805.1:c.-295C= ENSP00000417012.1:n.-295C=
ENST00000546407.1:n.166+3782C=
XM_011515751.1:c.143+245C= XP_011514053.1:n.143+245C=
XM_011515752.1:c.143+245C= XP_011514054.1:n.143+245C=
XM_011515753.1:c.-295C= XP_011514055.1:n.-295C=
XM_011515754.1:c.-623C= XP_011514056.1:n.-623C=
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