Canonical Allele Identifier: CA832112128
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1442465947
gnomAD v3: 7-117478781-C-G
gnomAD v4: 7-117478781-C-G
MyVariant Identifiers: chr7:g.117118835C>G (hg19) chr7:g.117478781C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478781C>G , CM000669.2:g.117478781C>G GRCh38
NC_000007.13:g.117118835C>G , CM000669.1:g.117118835C>G GRCh37
NC_000007.12:g.116906071C>G NCBI36
NG_016465.4:g.17998C>G , LRG_663:g.17998C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-526+359C>G ENSP00000417012.1:n.-526+359C>G
ENST00000673785.1:c.-406+12950C>G ENSP00000501235.1:n.-406+12950C>G
ENST00000546407.1:n.166+2973C>G
XM_011515751.1:c.41+359C>G XP_011514053.1:n.41+359C>G
XM_011515752.1:c.41+359C>G XP_011514054.1:n.41+359C>G
XM_011515754.1:c.-1316C>G XP_011514056.1:n.-1316C>G
Search 100 bp 5'
Search 100 bp 3'