Canonical Allele Identifier: CA164948550
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs947133308
gnomAD v4: 7-117479760-G-C
MyVariant Identifiers: chr7:g.117119814G>C (hg19) chr7:g.117479760G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479760G>C , CM000669.2:g.117479760G>C GRCh38
NC_000007.13:g.117119814G>C , CM000669.1:g.117119814G>C GRCh37
NC_000007.12:g.116907050G>C NCBI36
NG_016465.4:g.18977G>C , LRG_663:g.18977G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-191+66G>C ENSP00000417012.1:n.-191+66G>C
ENST00000673785.1:c.-406+13929G>C ENSP00000501235.1:n.-406+13929G>C
ENST00000446805.1:c.-191+66G>C ENSP00000417012.1:n.-191+66G>C
ENST00000546407.1:n.166+3952G>C
XM_011515751.1:c.143+415G>C XP_011514053.1:n.143+415G>C
XM_011515752.1:c.143+415G>C XP_011514054.1:n.143+415G>C
XM_011515753.1:c.-191+66G>C XP_011514055.1:n.-191+66G>C
XM_011515754.1:c.-519+66G>C XP_011514056.1:n.-519+66G>C
Search 100 bp 5'
Search 100 bp 3'