Canonical Allele Identifier: CA431492712

Gene: CUL3

Linked Data

• dbSNP Id: rs1692487267
• gnomAD v3: 2-224503775-A-G
• gnomAD v4: 2-224503775-A-G
• MyVariant Identifiers: chr2:g.225368492A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.224503775A>G , CM000664.2:g.224503775A>G	GRCh38
NC_000002.11:g.225368492A>G , CM000664.1:g.225368492A>G	GRCh37
NC_000002.10:g.225076736A>G	NCBI36
NG_032169.1:g.86623T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264414.9:c.1254T>C MANE Select	ENSP00000264414.4:p.Leu418=
ENST00000264414.8:c.1254T>C	ENSP00000264414.4:p.Leu418=
ENST00000344951.8:c.1056T>C	ENSP00000343601.4:p.Leu352=
ENST00000409096.5:c.1182T>C	ENSP00000387200.1:p.Leu394=
ENST00000409777.5:c.1182T>C	ENSP00000386525.1:p.Leu394=
ENST00000481135.1:n.550T>C
ENST00000617432.4:c.-23T>C	ENSP00000477851.1:n.-23T>C
NM_001257197.1:c.1056T>C	NP_001244126.1:p.Leu352=
NM_001257198.1:c.1272T>C	NP_001244127.1:p.Leu424=
NM_003590.4:c.1254T>C	NP_003581.1:p.Leu418=
XM_006712800.2:c.1221T>C	XP_006712863.2:p.Leu407=
XM_011511994.1:c.1107T>C	XP_011510296.1:p.Leu369=
XM_011511995.1:c.1212T>C	XP_011510297.1:p.Leu404=
XM_011511996.1:c.1062T>C	XP_011510298.1:p.Leu354=
XM_011511997.1:c.954T>C	XP_011510299.1:p.Leu318=
XM_011511994.3:c.1107T>C	XP_011510296.1:p.Leu369=
XM_011511996.2:c.1062T>C	XP_011510298.1:p.Leu354=
NM_003590.5:c.1254T>C MANE Select	NP_003581.1:p.Leu418=
NM_001257198.2:c.1272T>C	NP_001244127.1:p.Leu424=
NM_001257197.2:c.1056T>C	NP_001244126.1:p.Leu352=