Canonical Allele Identifier: CA164948219
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 557329
ClinVar RCV Id: RCV000673456
dbSNP Id: rs780557040
gnomAD v2: 7-117119253-CATT-C
gnomAD v3: 7-117479199-CATT-C
gnomAD v4: 7-117479199-CATT-C
MyVariant Identifiers: chr7:g.117119254_117119256del (hg19) chr7:g.117479202_117479204del (hg38) chr7:g.117479200_117479202del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479202_117479204del , CM000669.2:g.117479202_117479204del GRCh38
NC_000007.13:g.117119256_117119258del , CM000669.1:g.117119256_117119258del GRCh37
NC_000007.12:g.116906492_116906494del NCBI36
NG_016465.4:g.18419_18421del , LRG_663:g.18419_18421del

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-42_-525-40del ENSP00000417012.1:n.-525-42_-525-40del
ENST00000673785.1:c.-406+13371_-406+13373del ENSP00000501235.1:n.-406+13371_-406+13373del
ENST00000546407.1:n.166+3394_166+3396del
XM_011515751.1:c.42-42_42-40del XP_011514053.1:n.42-42_42-40del
XM_011515752.1:c.42-42_42-40del XP_011514054.1:n.42-42_42-40del
XM_011515754.1:c.-895_-893del XP_011514056.1:n.-895_-893del
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