Canonical Allele Identifier: CA269965

Gene: CUL3

Linked Data

• ClinVar Variation Id: 100525
• ClinVar RCV Id: RCV000128497
• dbSNP Id: rs199469660
• MyVariant Identifiers: chr2:g.225368368C>G (hg19) ; chr2:g.224503651C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.224503651C>G , CM000664.2:g.224503651C>G	GRCh38
NC_000002.11:g.225368368C>G , CM000664.1:g.225368368C>G	GRCh37
NC_000002.10:g.225076612C>G	NCBI36
NG_032169.1:g.86747G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264414.9:c.1377+1G>C MANE Select	ENSP00000264414.4:n.1377+1G>C
ENST00000264414.8:c.1377+1G>C	ENSP00000264414.4:n.1377+1G>C
ENST00000344951.8:c.1179+1G>C	ENSP00000343601.4:n.1179+1G>C
ENST00000409096.5:c.1305+1G>C	ENSP00000387200.1:n.1305+1G>C
ENST00000409777.5:c.1305+1G>C	ENSP00000386525.1:n.1305+1G>C
ENST00000481135.1:n.673+1G>C
ENST00000617432.4:c.99+1G>C	ENSP00000477851.1:n.99+1G>C
NM_001257197.1:c.1179+1G>C	NP_001244126.1:n.1179+1G>C
NM_001257198.1:c.1395+1G>C	NP_001244127.1:n.1395+1G>C
NM_003590.4:c.1377+1G>C	NP_003581.1:n.1377+1G>C
XM_006712800.2:c.1344+1G>C	XP_006712863.2:n.1344+1G>C
XM_011511994.1:c.1230+1G>C	XP_011510296.1:n.1230+1G>C
XM_011511995.1:c.1335+1G>C	XP_011510297.1:n.1335+1G>C
XM_011511996.1:c.1185+1G>C	XP_011510298.1:n.1185+1G>C
XM_011511997.1:c.1077+1G>C	XP_011510299.1:n.1077+1G>C
XM_011511994.3:c.1230+1G>C	XP_011510296.1:n.1230+1G>C
XM_011511996.2:c.1185+1G>C	XP_011510298.1:n.1185+1G>C
NM_003590.5:c.1377+1G>C MANE Select	NP_003581.1:n.1377+1G>C
NM_001257198.2:c.1395+1G>C	NP_001244127.1:n.1395+1G>C
NM_001257197.2:c.1179+1G>C	NP_001244126.1:n.1179+1G>C