Canonical Allele Identifier: CA1737344021
Gene: CFTR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479570C= , CM000669.2:g.117479570C= GRCh38
NC_000007.13:g.117119624C= , CM000669.1:g.117119624C= GRCh37
NC_000007.12:g.116906860C= NCBI36
NG_016465.4:g.18787C= , LRG_663:g.18787C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-315C= ENSP00000417012.1:n.-315C=
ENST00000673785.1:c.-406+13739C= ENSP00000501235.1:n.-406+13739C=
ENST00000446805.1:c.-315C= ENSP00000417012.1:n.-315C=
ENST00000546407.1:n.166+3762C=
XM_011515751.1:c.143+225C= XP_011514053.1:n.143+225C=
XM_011515752.1:c.143+225C= XP_011514054.1:n.143+225C=
XM_011515753.1:c.-315C= XP_011514055.1:n.-315C=
XM_011515754.1:c.-643C= XP_011514056.1:n.-643C=
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