Canonical Allele Identifier: CA1737343649
Gene: CFTR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479079G= , CM000669.2:g.117479079G= GRCh38
NC_000007.13:g.117119133G= , CM000669.1:g.117119133G= GRCh37
NC_000007.12:g.116906369G= NCBI36
NG_016465.4:g.18296G= , LRG_663:g.18296G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-165G= ENSP00000417012.1:n.-525-165G=
ENST00000673785.1:c.-406+13248G= ENSP00000501235.1:n.-406+13248G=
ENST00000546407.1:n.166+3271G=
XM_011515751.1:c.42-165G= XP_011514053.1:n.42-165G=
XM_011515752.1:c.42-165G= XP_011514054.1:n.42-165G=
XM_011515754.1:c.-1018G= XP_011514056.1:n.-1018G=
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