Canonical Allele Identifier: CA397763041
Gene: FBXO39 HGNC NCBI

Linked Data

dbSNP Id: rs1156360829
gnomAD v2: 17-6684187-C-T
gnomAD v4: 17-6780868-C-T
MyVariant Identifiers: chr17:g.6684187C>T (hg19) chr17:g.6780868C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780868C>T , CM000679.2:g.6780868C>T GRCh38
NC_000017.10:g.6684187C>T , CM000679.1:g.6684187C>T GRCh37
NC_000017.9:g.6624911C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.1000C>T MANE Select ENSP00000321386.4:p.Pro334Ser
ENST00000321535.4:c.1000C>T ENSP00000321386.4:p.Pro334Ser
NM_153230.2:c.1000C>T NP_694962.1:p.Pro334Ser
XM_011523697.1:c.1000C>T XP_011521999.1:p.Pro334Ser
XR_243544.3:n.1178C>T
NM_153230.3:c.1000C>T MANE Select NP_694962.1:p.Pro334Ser
Search 100 bp 5'
Search 100 bp 3'