Canonical Allele Identifier: CA164948148

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1144671
• ClinVar RCV Id: RCV001483214 ; RCV002256794 ; RCV003426146
• dbSNP Id: rs574740041
• gnomAD v2: 7-117119105-C-CT
• gnomAD v3: 7-117479051-C-CT
• gnomAD v4: 7-117479051-C-CT
• MyVariant Identifiers: chr7:g.117119105_117119106insT (hg19) ; chr7:g.117479051_117479052insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479052dup , CM000669.2:g.117479052dup	GRCh38
NC_000007.13:g.117119106dup , CM000669.1:g.117119106dup	GRCh37
NC_000007.12:g.116906342dup	NCBI36
NG_016465.4:g.18269dup , LRG_663:g.18269dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-525-192dup	ENSP00000417012.1:n.-525-192dup
ENST00000673785.1:c.-406+13221dup	ENSP00000501235.1:n.-406+13221dup
ENST00000546407.1:n.166+3244dup
XM_011515751.1:c.42-192dup	XP_011514053.1:n.42-192dup
XM_011515752.1:c.42-192dup	XP_011514054.1:n.42-192dup
XM_011515754.1:c.-1045dup	XP_011514056.1:n.-1045dup