Canonical Allele Identifier: CA1092299797
Gene: FBXL4 HGNC NCBI

Linked Data

gnomAD v3: 6-98874220-A-C
gnomAD v4: 6-98874220-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98874220A>C , CM000668.2:g.98874220A>C GRCh38
NC_000006.11:g.99322096A>C , CM000668.1:g.99322096A>C GRCh37
NC_000006.10:g.99428817A>C NCBI36
NG_033903.1:g.78787T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369244.7:c.*58T>G MANE Select ENSP00000358247.1:n.*58T>G
ENST00000229971.2:c.*58T>G ENSP00000229971.1:n.*58T>G
ENST00000369244.6:c.*58T>G ENSP00000358247.1:n.*58T>G
NM_001278716.1:c.*58T>G NP_001265645.1:n.*58T>G
NM_012160.4:c.*58T>G NP_036292.2:n.*58T>G
NR_103836.1:n.1969T>G
XM_005266930.1:c.*58T>G XP_005266987.1:n.*58T>G
XM_005266930.3:c.*58T>G XP_005266987.1:n.*58T>G
XM_017010726.1:c.*58T>G XP_016866215.1:n.*58T>G
XM_017010727.2:c.*58T>G XP_016866216.1:n.*58T>G
XM_017010728.1:c.*58T>G XP_016866217.1:n.*58T>G
NM_001278716.2:c.*58T>G MANE Select NP_001265645.1:n.*58T>G
NR_103836.2:n.1909T>G
NM_012160.5:c.*58T>G NP_036292.2:n.*58T>G