Canonical Allele Identifier: CA2684616519
Gene: CFTR HGNC NCBI

Linked Data

gnomAD v4: 7-117479572-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479572A>G , CM000669.2:g.117479572A>G GRCh38
NC_000007.13:g.117119626A>G , CM000669.1:g.117119626A>G GRCh37
NC_000007.12:g.116906862A>G NCBI36
NG_016465.4:g.18789A>G , LRG_663:g.18789A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-313A>G ENSP00000417012.1:n.-313A>G
ENST00000673785.1:c.-406+13741A>G ENSP00000501235.1:n.-406+13741A>G
ENST00000446805.1:c.-313A>G ENSP00000417012.1:n.-313A>G
ENST00000546407.1:n.166+3764A>G
XM_011515751.1:c.143+227A>G XP_011514053.1:n.143+227A>G
XM_011515752.1:c.143+227A>G XP_011514054.1:n.143+227A>G
XM_011515753.1:c.-313A>G XP_011514055.1:n.-313A>G
XM_011515754.1:c.-641A>G XP_011514056.1:n.-641A>G
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