Canonical Allele Identifier: CA832112405
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1164329055
gnomAD v3: 7-117479234-T-TC
gnomAD v4: 7-117479234-T-TC
MyVariant Identifiers: chr7:g.117119288_117119289insC (hg19) chr7:g.117479234_117479235insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479235dup , CM000669.2:g.117479235dup GRCh38
NC_000007.13:g.117119289dup , CM000669.1:g.117119289dup GRCh37
NC_000007.12:g.116906525dup NCBI36
NG_016465.4:g.18452dup , LRG_663:g.18452dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-9dup ENSP00000417012.1:n.-525-9dup
ENST00000673785.1:c.-406+13404dup ENSP00000501235.1:n.-406+13404dup
ENST00000546407.1:n.166+3427dup
XM_011515751.1:c.42-9dup XP_011514053.1:n.42-9dup
XM_011515752.1:c.42-9dup XP_011514054.1:n.42-9dup
XM_011515754.1:c.-862dup XP_011514056.1:n.-862dup
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