Canonical Allele Identifier: CA164948185
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs752263344
gnomAD v3: 7-117479127-C-G
gnomAD v4: 7-117479127-C-G
MyVariant Identifiers: chr7:g.117119181C>G (hg19) chr7:g.117479127C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479127C>G , CM000669.2:g.117479127C>G GRCh38
NC_000007.13:g.117119181C>G , CM000669.1:g.117119181C>G GRCh37
NC_000007.12:g.116906417C>G NCBI36
NG_016465.4:g.18344C>G , LRG_663:g.18344C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-117C>G ENSP00000417012.1:n.-525-117C>G
ENST00000673785.1:c.-406+13296C>G ENSP00000501235.1:n.-406+13296C>G
ENST00000546407.1:n.166+3319C>G
XM_011515751.1:c.42-117C>G XP_011514053.1:n.42-117C>G
XM_011515752.1:c.42-117C>G XP_011514054.1:n.42-117C>G
XM_011515754.1:c.-970C>G XP_011514056.1:n.-970C>G
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