Canonical Allele Identifier: CA1737343924
Gene: CFTR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479460A= , CM000669.2:g.117479460A= GRCh38
NC_000007.13:g.117119514A= , CM000669.1:g.117119514A= GRCh37
NC_000007.12:g.116906750A= NCBI36
NG_016465.4:g.18677A= , LRG_663:g.18677A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-423-2A= ENSP00000417012.1:n.-423-2A=
ENST00000673785.1:c.-406+13629A= ENSP00000501235.1:n.-406+13629A=
ENST00000446805.1:c.-423-2A= ENSP00000417012.1:n.-423-2A=
ENST00000546407.1:n.166+3652A=
XM_011515751.1:c.143+115A= XP_011514053.1:n.143+115A=
XM_011515752.1:c.143+115A= XP_011514054.1:n.143+115A=
XM_011515753.1:c.-423-2A= XP_011514055.1:n.-423-2A=
XM_011515754.1:c.-751-2A= XP_011514056.1:n.-751-2A=
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