Canonical Allele Identifier: CA164948432
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 557109
ClinVar RCV Id: RCV000673201
dbSNP Id: rs747238661
MyVariant Identifiers: chr7:g.117119547_117119548insG (hg19) chr7:g.117479495dupG (hg38) chr7:g.117479493_117479494insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479495dup , CM000669.2:g.117479495dup GRCh38
NC_000007.13:g.117119549dup , CM000669.1:g.117119549dup GRCh37
NC_000007.12:g.116906785dup NCBI36
NG_016465.4:g.18712dup , LRG_663:g.18712dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-390dup ENSP00000417012.1:n.-390dup
ENST00000673785.1:c.-406+13664dup ENSP00000501235.1:n.-406+13664dup
ENST00000446805.1:c.-390dup ENSP00000417012.1:n.-390dup
ENST00000546407.1:n.166+3687dup
XM_011515751.1:c.143+150dup XP_011514053.1:n.143+150dup
XM_011515752.1:c.143+150dup XP_011514054.1:n.143+150dup
XM_011515753.1:c.-390dup XP_011514055.1:n.-390dup
XM_011515754.1:c.-718dup XP_011514056.1:n.-718dup
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