Canonical Allele Identifier: CA271585

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 158726
• ClinVar RCV Id: RCV000146164
• dbSNP Id: rs587783688
• MyVariant Identifiers: chr12:g.49425526G>T (hg19) ; chr12:g.49031743G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49031743G>T , CM000674.2:g.49031743G>T	GRCh38
NC_000012.11:g.49425526G>T , CM000674.1:g.49425526G>T	GRCh37
NC_000012.10:g.47711793G>T	NCBI36
NG_027827.1:g.28582C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.12962C>A	ENSP00000506726.1:p.Ser4321Ter
ENST00000685166.1:c.12971C>A	ENSP00000509386.1:p.Ser4324Ter
ENST00000685554.1:c.1753-431C>A	ENSP00000508640.1:n.1753-431C>A
ENST00000692637.1:c.12959C>A	ENSP00000509666.1:p.Ser4320Ter
ENST00000692841.1:c.4441C>A	ENSP00000508711.1:n.4441C>A
ENST00000301067.12:c.12962C>A MANE Select	ENSP00000301067.7:p.Ser4321Ter
ENST00000301067.11:c.12962C>A	ENSP00000301067.7:p.Ser4321Ter
NM_003482.3:c.12962C>A	NP_003473.3:p.Ser4321Ter
XM_005269162.3:c.12962C>A	XP_005269219.1:p.Ser4321Ter
XM_006719614.2:c.12971C>A	XP_006719677.1:p.Ser4324Ter
XM_006719616.2:c.12959C>A	XP_006719679.1:p.Ser4320Ter
XM_011538770.1:c.12971C>A	XP_011537072.1:p.Ser4324Ter
XM_011538771.1:c.12968C>A	XP_011537073.1:p.Ser4323Ter
XM_011538772.1:c.12962C>A	XP_011537074.1:p.Ser4321Ter
XM_011538773.1:c.12959C>A	XP_011537075.1:p.Ser4320Ter
XM_011538774.1:c.12950C>A	XP_011537076.1:p.Ser4317Ter
XM_011538775.1:c.12971C>A	XP_011537077.1:p.Ser4324Ter
XM_011538776.1:c.12878C>A	XP_011537078.1:p.Ser4293Ter
XR_944740.1:n.15291C>A
XM_005269162.4:c.12962C>A	XP_005269219.1:p.Ser4321Ter
XM_006719614.4:c.12971C>A	XP_006719677.1:p.Ser4324Ter
XM_006719616.3:c.12959C>A	XP_006719679.1:p.Ser4320Ter
XM_011538770.2:c.12971C>A	XP_011537072.1:p.Ser4324Ter
XM_011538771.2:c.12968C>A	XP_011537073.1:p.Ser4323Ter
XM_011538772.2:c.12962C>A	XP_011537074.1:p.Ser4321Ter
XM_011538773.2:c.12959C>A	XP_011537075.1:p.Ser4320Ter
XM_011538774.2:c.12950C>A	XP_011537076.1:p.Ser4317Ter
XM_011538776.2:c.12878C>A	XP_011537078.1:p.Ser4293Ter
XR_001748874.1:n.14280C>A
NM_003482.4:c.12962C>A MANE Select	NP_003473.3:p.Ser4321Ter