Canonical Allele Identifier: CA1737344075
Gene: CFTR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479634A= , CM000669.2:g.117479634A= GRCh38
NC_000007.13:g.117119688A= , CM000669.1:g.117119688A= GRCh37
NC_000007.12:g.116906924A= NCBI36
NG_016465.4:g.18851A= , LRG_663:g.18851A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-251A= ENSP00000417012.1:n.-251A=
ENST00000673785.1:c.-406+13803A= ENSP00000501235.1:n.-406+13803A=
ENST00000446805.1:c.-251A= ENSP00000417012.1:n.-251A=
ENST00000546407.1:n.166+3826A=
XM_011515751.1:c.143+289A= XP_011514053.1:n.143+289A=
XM_011515752.1:c.143+289A= XP_011514054.1:n.143+289A=
XM_011515753.1:c.-251A= XP_011514055.1:n.-251A=
XM_011515754.1:c.-579A= XP_011514056.1:n.-579A=
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