Canonical Allele Identifier: CA16021069

Gene: FBXL4

Linked Data

• dbSNP Id: rs1173159145
• gnomAD v2: 6-99323449-C-A
• gnomAD v4: 6-98875573-C-A
• MyVariant Identifiers: chr6:g.99323449C>A (hg19) ; chr6:g.98875573C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98875573C>A , CM000668.2:g.98875573C>A	GRCh38
NC_000006.11:g.99323449C>A , CM000668.1:g.99323449C>A	GRCh37
NC_000006.10:g.99430170C>A	NCBI36
NG_033903.1:g.77434G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369244.7:c.1544G>T MANE Select	ENSP00000358247.1:p.Cys515Phe
ENST00000229971.2:c.1544G>T	ENSP00000229971.1:p.Cys515Phe
ENST00000369244.6:c.1544G>T	ENSP00000358247.1:p.Cys515Phe
NM_001278716.1:c.1544G>T	NP_001265645.1:p.Cys515Phe
NM_012160.4:c.1544G>T	NP_036292.2:p.Cys515Phe
NR_103836.1:n.1589G>T
XM_005266930.1:c.1472G>T	XP_005266987.1:p.Cys491Phe
XM_005266930.3:c.1472G>T	XP_005266987.1:p.Cys491Phe
XM_017010726.1:c.1544G>T	XP_016866215.1:p.Cys515Phe
XM_017010727.2:c.1472G>T	XP_016866216.1:p.Cys491Phe
XM_017010728.1:c.818G>T	XP_016866217.1:p.Cys273Phe
NM_001278716.2:c.1544G>T MANE Select	NP_001265645.1:p.Cys515Phe
NR_103836.2:n.1529G>T
NM_012160.5:c.1544G>T	NP_036292.2:p.Cys515Phe