Canonical Allele Identifier: CA384691553

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 433190
• ClinVar RCV Id: RCV000498429
• dbSNP Id: rs940178682
• MyVariant Identifiers: chr12:g.49420906G>C (hg19) ; chr12:g.49027123G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49027123G>C , CM000674.2:g.49027123G>C	GRCh38
NC_000012.11:g.49420906G>C , CM000674.1:g.49420906G>C	GRCh37
NC_000012.10:g.47707173G>C	NCBI36
NG_027827.1:g.33202C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.14843C>G	ENSP00000506726.1:p.Ser4948Ter
ENST00000685166.1:c.14852C>G	ENSP00000509386.1:p.Ser4951Ter
ENST00000688411.1:c.261+680C>G	ENSP00000510146.1:n.261+680C>G
ENST00000691463.1:c.262-33C>G	ENSP00000510624.1:n.262-33C>G
ENST00000692637.1:c.14840C>G	ENSP00000509666.1:p.Ser4947Ter
ENST00000301067.12:c.14843C>G MANE Select	ENSP00000301067.7:p.Ser4948Ter
ENST00000301067.11:c.14843C>G	ENSP00000301067.7:p.Ser4948Ter
NM_003482.3:c.14843C>G	NP_003473.3:p.Ser4948Ter
XM_005269162.3:c.14843C>G	XP_005269219.1:p.Ser4948Ter
XM_006719614.2:c.14852C>G	XP_006719677.1:p.Ser4951Ter
XM_006719616.2:c.14840C>G	XP_006719679.1:p.Ser4947Ter
XM_011538770.1:c.14852C>G	XP_011537072.1:p.Ser4951Ter
XM_011538771.1:c.14849C>G	XP_011537073.1:p.Ser4950Ter
XM_011538772.1:c.14843C>G	XP_011537074.1:p.Ser4948Ter
XM_011538773.1:c.14840C>G	XP_011537075.1:p.Ser4947Ter
XM_011538774.1:c.14831C>G	XP_011537076.1:p.Ser4944Ter
XM_011538775.1:c.14786C>G	XP_011537077.1:p.Ser4929Ter
XM_011538776.1:c.14759C>G	XP_011537078.1:p.Ser4920Ter
XR_944740.1:n.16972+680C>G
XM_005269162.4:c.14843C>G	XP_005269219.1:p.Ser4948Ter
XM_006719614.4:c.14852C>G	XP_006719677.1:p.Ser4951Ter
XM_006719616.3:c.14840C>G	XP_006719679.1:p.Ser4947Ter
XM_011538770.2:c.14852C>G	XP_011537072.1:p.Ser4951Ter
XM_011538771.2:c.14849C>G	XP_011537073.1:p.Ser4950Ter
XM_011538772.2:c.14843C>G	XP_011537074.1:p.Ser4948Ter
XM_011538773.2:c.14840C>G	XP_011537075.1:p.Ser4947Ter
XM_011538774.2:c.14831C>G	XP_011537076.1:p.Ser4944Ter
XM_011538776.2:c.14759C>G	XP_011537078.1:p.Ser4920Ter
XR_001748874.1:n.15961+680C>G
NM_003482.4:c.14843C>G MANE Select	NP_003473.3:p.Ser4948Ter