Canonical Allele Identifier: CA350827603

Gene: CUL3

Linked Data

• dbSNP Id: rs1214053324
• gnomAD v2: 2-225368494-G-A
• gnomAD v4: 2-224503777-G-A
• MyVariant Identifiers: chr2:g.225368494G>A (hg19) ; chr2:g.224503777G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.224503777G>A , CM000664.2:g.224503777G>A	GRCh38
NC_000002.11:g.225368494G>A , CM000664.1:g.225368494G>A	GRCh37
NC_000002.10:g.225076738G>A	NCBI36
NG_032169.1:g.86621C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264414.9:c.1252C>T MANE Select	ENSP00000264414.4:p.Leu418Phe
ENST00000264414.8:c.1252C>T	ENSP00000264414.4:p.Leu418Phe
ENST00000344951.8:c.1054C>T	ENSP00000343601.4:p.Leu352Phe
ENST00000409096.5:c.1180C>T	ENSP00000387200.1:p.Leu394Phe
ENST00000409777.5:c.1180C>T	ENSP00000386525.1:p.Leu394Phe
ENST00000481135.1:n.548C>T
ENST00000617432.4:c.-25C>T	ENSP00000477851.1:n.-25C>T
NM_001257197.1:c.1054C>T	NP_001244126.1:p.Leu352Phe
NM_001257198.1:c.1270C>T	NP_001244127.1:p.Leu424Phe
NM_003590.4:c.1252C>T	NP_003581.1:p.Leu418Phe
XM_006712800.2:c.1219C>T	XP_006712863.2:p.Leu407Phe
XM_011511994.1:c.1105C>T	XP_011510296.1:p.Leu369Phe
XM_011511995.1:c.1210C>T	XP_011510297.1:p.Leu404Phe
XM_011511996.1:c.1060C>T	XP_011510298.1:p.Leu354Phe
XM_011511997.1:c.952C>T	XP_011510299.1:p.Leu318Phe
XM_011511994.3:c.1105C>T	XP_011510296.1:p.Leu369Phe
XM_011511996.2:c.1060C>T	XP_011510298.1:p.Leu354Phe
NM_003590.5:c.1252C>T MANE Select	NP_003581.1:p.Leu418Phe
NM_001257198.2:c.1270C>T	NP_001244127.1:p.Leu424Phe
NM_001257197.2:c.1054C>T	NP_001244126.1:p.Leu352Phe