Canonical Allele Identifier: CA2684616495
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 3076099
ClinVar RCV Id: RCV004018416
gnomAD v4: 7-117479547-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479547C>A , CM000669.2:g.117479547C>A GRCh38
NC_000007.13:g.117119601C>A , CM000669.1:g.117119601C>A GRCh37
NC_000007.12:g.116906837C>A NCBI36
NG_016465.4:g.18764C>A , LRG_663:g.18764C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-338C>A ENSP00000417012.1:n.-338C>A
ENST00000673785.1:c.-406+13716C>A ENSP00000501235.1:n.-406+13716C>A
ENST00000446805.1:c.-338C>A ENSP00000417012.1:n.-338C>A
ENST00000546407.1:n.166+3739C>A
XM_011515751.1:c.143+202C>A XP_011514053.1:n.143+202C>A
XM_011515752.1:c.143+202C>A XP_011514054.1:n.143+202C>A
XM_011515753.1:c.-338C>A XP_011514055.1:n.-338C>A
XM_011515754.1:c.-666C>A XP_011514056.1:n.-666C>A
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