Canonical Allele Identifier: CA577211692
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1268985269
gnomAD v2: 7-117119620-G-A
gnomAD v3: 7-117479566-G-A
gnomAD v4: 7-117479566-G-A
MyVariant Identifiers: chr7:g.117119620G>A (hg19) chr7:g.117479566G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479566G>A , CM000669.2:g.117479566G>A GRCh38
NC_000007.13:g.117119620G>A , CM000669.1:g.117119620G>A GRCh37
NC_000007.12:g.116906856G>A NCBI36
NG_016465.4:g.18783G>A , LRG_663:g.18783G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-319G>A ENSP00000417012.1:n.-319G>A
ENST00000673785.1:c.-406+13735G>A ENSP00000501235.1:n.-406+13735G>A
ENST00000446805.1:c.-319G>A ENSP00000417012.1:n.-319G>A
ENST00000546407.1:n.166+3758G>A
XM_011515751.1:c.143+221G>A XP_011514053.1:n.143+221G>A
XM_011515752.1:c.143+221G>A XP_011514054.1:n.143+221G>A
XM_011515753.1:c.-319G>A XP_011514055.1:n.-319G>A
XM_011515754.1:c.-647G>A XP_011514056.1:n.-647G>A
Search 100 bp 5'
Search 100 bp 3'