Canonical Allele Identifier: CA164948198
Gene: CFTR HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.117479129T>G
GRCh37 chr7:g.117119183T>G
gnomAD v2:
7:117119183 T / G
gnomAD v3:
7:117479129 T / G
gnomAD v4:
chr7-117479129-T-G
Joint Max Group AF 0.44885612 (EAS)
Genomes Max Group AF 0.44885612 (EAS)
ClinVar RCV:
RCV001009349
ClinVar Variation:
818101
dbSNP:
4148682
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479129T>G , CM000669.2:g.117479129T>G GRCh38
NC_000007.13:g.117119183T>G , CM000669.1:g.117119183T>G GRCh37
NC_000007.12:g.116906419T>G NCBI36
NG_016465.4:g.18346T>G , LRG_663:g.18346T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-115T>G ENSP00000417012.1:n.-525-115T>G
ENST00000673785.1:c.-406+13298T>G ENSP00000501235.1:n.-406+13298T>G
ENST00000546407.1:n.166+3321T>G
XM_011515751.1:c.42-115T>G XP_011514053.1:n.42-115T>G
XM_011515752.1:c.42-115T>G XP_011514054.1:n.42-115T>G
XM_011515754.1:c.-968T>G XP_011514056.1:n.-968T>G
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