Canonical Allele Identifier: CA2684616544
Gene: CFTR HGNC NCBI

Linked Data

gnomAD v4: 7-117479619-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479619C>A , CM000669.2:g.117479619C>A GRCh38
NC_000007.13:g.117119673C>A , CM000669.1:g.117119673C>A GRCh37
NC_000007.12:g.116906909C>A NCBI36
NG_016465.4:g.18836C>A , LRG_663:g.18836C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-266C>A ENSP00000417012.1:n.-266C>A
ENST00000673785.1:c.-406+13788C>A ENSP00000501235.1:n.-406+13788C>A
ENST00000446805.1:c.-266C>A ENSP00000417012.1:n.-266C>A
ENST00000546407.1:n.166+3811C>A
XM_011515751.1:c.143+274C>A XP_011514053.1:n.143+274C>A
XM_011515752.1:c.143+274C>A XP_011514054.1:n.143+274C>A
XM_011515753.1:c.-266C>A XP_011514055.1:n.-266C>A
XM_011515754.1:c.-594C>A XP_011514056.1:n.-594C>A
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