Canonical Allele Identifier: CA384649101

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 531883
• ClinVar RCV Id: RCV000638432
• dbSNP Id: rs1555195432
• MyVariant Identifiers: chr12:g.49441762A>C (hg19) ; chr12:g.49047979A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49047979A>C , CM000674.2:g.49047979A>C	GRCh38
NC_000012.11:g.49441762A>C , CM000674.1:g.49441762A>C	GRCh37
NC_000012.10:g.47728029A>C	NCBI36
NG_027827.1:g.12346T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.4222T>G	ENSP00000506726.1:p.Cys1408Gly
ENST00000685166.1:c.4222T>G	ENSP00000509386.1:p.Cys1408Gly
ENST00000688095.1:c.202T>G	ENSP00000510007.1:p.Cys68Gly
ENST00000692637.1:c.4219T>G	ENSP00000509666.1:p.Cys1407Gly
ENST00000301067.12:c.4222T>G MANE Select	ENSP00000301067.7:p.Cys1408Gly
ENST00000301067.11:c.4222T>G	ENSP00000301067.7:p.Cys1408Gly
NM_003482.3:c.4222T>G	NP_003473.3:p.Cys1408Gly
XM_005269162.3:c.4222T>G	XP_005269219.1:p.Cys1408Gly
XM_006719614.2:c.4222T>G	XP_006719677.1:p.Cys1408Gly
XM_006719616.2:c.4219T>G	XP_006719679.1:p.Cys1407Gly
XM_011538770.1:c.4222T>G	XP_011537072.1:p.Cys1408Gly
XM_011538771.1:c.4219T>G	XP_011537073.1:p.Cys1407Gly
XM_011538772.1:c.4222T>G	XP_011537074.1:p.Cys1408Gly
XM_011538773.1:c.4219T>G	XP_011537075.1:p.Cys1407Gly
XM_011538774.1:c.4222T>G	XP_011537076.1:p.Cys1408Gly
XM_011538775.1:c.4222T>G	XP_011537077.1:p.Cys1408Gly
XM_011538776.1:c.4222T>G	XP_011537078.1:p.Cys1408Gly
XR_944740.1:n.6542T>G
XM_005269162.4:c.4222T>G	XP_005269219.1:p.Cys1408Gly
XM_006719614.4:c.4222T>G	XP_006719677.1:p.Cys1408Gly
XM_006719616.3:c.4219T>G	XP_006719679.1:p.Cys1407Gly
XM_011538770.2:c.4222T>G	XP_011537072.1:p.Cys1408Gly
XM_011538771.2:c.4219T>G	XP_011537073.1:p.Cys1407Gly
XM_011538772.2:c.4222T>G	XP_011537074.1:p.Cys1408Gly
XM_011538773.2:c.4219T>G	XP_011537075.1:p.Cys1407Gly
XM_011538774.2:c.4222T>G	XP_011537076.1:p.Cys1408Gly
XM_011538776.2:c.4222T>G	XP_011537078.1:p.Cys1408Gly
XR_001748874.1:n.5531T>G
NM_003482.4:c.4222T>G MANE Select	NP_003473.3:p.Cys1408Gly