ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA164948287
Gene: CFTR
HGNC
NCBI
Linked Data
dbSNP Id:
rs756856572
MyVariant Identifiers:
chr7:g.117119354T>G (hg19)
chr7:g.117479300T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.117479300T>G , CM000669.2:g.117479300T>G
GRCh38
NC_000007.13:g.117119354T>G , CM000669.1:g.117119354T>G
GRCh37
NC_000007.12:g.116906590T>G
NCBI36
NG_016465.4:g.18517T>G , LRG_663:g.18517T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000446805.2:c.-469T>G
ENSP00000417012.1:n.-469T>G
ENST00000673785.1:c.-406+13469T>G
ENSP00000501235.1:n.-406+13469T>G
ENST00000546407.1:n.166+3492T>G
XM_011515751.1:c.98T>G
XP_011514053.1:p.Leu33Arg
XM_011515752.1:c.98T>G
XP_011514054.1:p.Leu33Arg
XM_011515754.1:c.-797T>G
XP_011514056.1:n.-797T>G
Search 100 bp 5'
Search 100 bp 3'