Canonical Allele Identifier: CA1737343636
Gene: CFTR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479049G= , CM000669.2:g.117479049G= GRCh38
NC_000007.13:g.117119103G= , CM000669.1:g.117119103G= GRCh37
NC_000007.12:g.116906339G= NCBI36
NG_016465.4:g.18266G= , LRG_663:g.18266G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-195G= ENSP00000417012.1:n.-525-195G=
ENST00000673785.1:c.-406+13218G= ENSP00000501235.1:n.-406+13218G=
ENST00000546407.1:n.166+3241G=
XM_011515751.1:c.42-195G= XP_011514053.1:n.42-195G=
XM_011515752.1:c.42-195G= XP_011514054.1:n.42-195G=
XM_011515754.1:c.-1048G= XP_011514056.1:n.-1048G=
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