Canonical Allele Identifier: CA384709963

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 488744
• ClinVar RCV Id: RCV000578523 ; RCV001853839 ; RCV002245021 ; RCV004545788
• dbSNP Id: rs1555187956
• MyVariant Identifiers: chr12:g.49425821G>A (hg19) ; chr12:g.49032038G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49032038G>A , CM000674.2:g.49032038G>A	GRCh38
NC_000012.11:g.49425821G>A , CM000674.1:g.49425821G>A	GRCh37
NC_000012.10:g.47712088G>A	NCBI36
NG_027827.1:g.28287C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.12667C>T	ENSP00000506726.1:p.Gln4223Ter
ENST00000685166.1:c.12676C>T	ENSP00000509386.1:p.Gln4226Ter
ENST00000685554.1:c.1752+475C>T	ENSP00000508640.1:n.1752+475C>T
ENST00000692637.1:c.12664C>T	ENSP00000509666.1:p.Gln4222Ter
ENST00000692841.1:c.4146C>T	ENSP00000508711.1:n.4146C>T
ENST00000301067.12:c.12667C>T MANE Select	ENSP00000301067.7:p.Gln4223Ter
ENST00000301067.11:c.12667C>T	ENSP00000301067.7:p.Gln4223Ter
NM_003482.3:c.12667C>T	NP_003473.3:p.Gln4223Ter
XM_005269162.3:c.12667C>T	XP_005269219.1:p.Gln4223Ter
XM_006719614.2:c.12676C>T	XP_006719677.1:p.Gln4226Ter
XM_006719616.2:c.12664C>T	XP_006719679.1:p.Gln4222Ter
XM_011538770.1:c.12676C>T	XP_011537072.1:p.Gln4226Ter
XM_011538771.1:c.12673C>T	XP_011537073.1:p.Gln4225Ter
XM_011538772.1:c.12667C>T	XP_011537074.1:p.Gln4223Ter
XM_011538773.1:c.12664C>T	XP_011537075.1:p.Gln4222Ter
XM_011538774.1:c.12655C>T	XP_011537076.1:p.Gln4219Ter
XM_011538775.1:c.12676C>T	XP_011537077.1:p.Gln4226Ter
XM_011538776.1:c.12583C>T	XP_011537078.1:p.Gln4195Ter
XR_944740.1:n.14996C>T
XM_005269162.4:c.12667C>T	XP_005269219.1:p.Gln4223Ter
XM_006719614.4:c.12676C>T	XP_006719677.1:p.Gln4226Ter
XM_006719616.3:c.12664C>T	XP_006719679.1:p.Gln4222Ter
XM_011538770.2:c.12676C>T	XP_011537072.1:p.Gln4226Ter
XM_011538771.2:c.12673C>T	XP_011537073.1:p.Gln4225Ter
XM_011538772.2:c.12667C>T	XP_011537074.1:p.Gln4223Ter
XM_011538773.2:c.12664C>T	XP_011537075.1:p.Gln4222Ter
XM_011538774.2:c.12655C>T	XP_011537076.1:p.Gln4219Ter
XM_011538776.2:c.12583C>T	XP_011537078.1:p.Gln4195Ter
XR_001748874.1:n.13985C>T
NM_003482.4:c.12667C>T MANE Select	NP_003473.3:p.Gln4223Ter