Canonical Allele Identifier: CA384692093

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 504375
• ClinVar RCV Id: RCV000599418 ; RCV000659817
• dbSNP Id: rs1555186053
• gnomAD v4: 12-49027253-G-A
• MyVariant Identifiers: chr12:g.49421036G>A (hg19) ; chr12:g.49027253G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49027253G>A , CM000674.2:g.49027253G>A	GRCh38
NC_000012.11:g.49421036G>A , CM000674.1:g.49421036G>A	GRCh37
NC_000012.10:g.47707303G>A	NCBI36
NG_027827.1:g.33072C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.14713C>T	ENSP00000506726.1:p.Gln4905Ter
ENST00000685166.1:c.14722C>T	ENSP00000509386.1:p.Gln4908Ter
ENST00000686151.1:n.288C>T
ENST00000688411.1:c.261+550C>T	ENSP00000510146.1:n.261+550C>T
ENST00000691463.1:c.262-163C>T	ENSP00000510624.1:n.262-163C>T
ENST00000692637.1:c.14710C>T	ENSP00000509666.1:p.Gln4904Ter
ENST00000301067.12:c.14713C>T MANE Select	ENSP00000301067.7:p.Gln4905Ter
ENST00000301067.11:c.14713C>T	ENSP00000301067.7:p.Gln4905Ter
NM_003482.3:c.14713C>T	NP_003473.3:p.Gln4905Ter
XM_005269162.3:c.14713C>T	XP_005269219.1:p.Gln4905Ter
XM_006719614.2:c.14722C>T	XP_006719677.1:p.Gln4908Ter
XM_006719616.2:c.14710C>T	XP_006719679.1:p.Gln4904Ter
XM_011538770.1:c.14722C>T	XP_011537072.1:p.Gln4908Ter
XM_011538771.1:c.14719C>T	XP_011537073.1:p.Gln4907Ter
XM_011538772.1:c.14713C>T	XP_011537074.1:p.Gln4905Ter
XM_011538773.1:c.14710C>T	XP_011537075.1:p.Gln4904Ter
XM_011538774.1:c.14701C>T	XP_011537076.1:p.Gln4901Ter
XM_011538775.1:c.14656C>T	XP_011537077.1:p.Gln4886Ter
XM_011538776.1:c.14629C>T	XP_011537078.1:p.Gln4877Ter
XR_944740.1:n.16972+550C>T
XM_005269162.4:c.14713C>T	XP_005269219.1:p.Gln4905Ter
XM_006719614.4:c.14722C>T	XP_006719677.1:p.Gln4908Ter
XM_006719616.3:c.14710C>T	XP_006719679.1:p.Gln4904Ter
XM_011538770.2:c.14722C>T	XP_011537072.1:p.Gln4908Ter
XM_011538771.2:c.14719C>T	XP_011537073.1:p.Gln4907Ter
XM_011538772.2:c.14713C>T	XP_011537074.1:p.Gln4905Ter
XM_011538773.2:c.14710C>T	XP_011537075.1:p.Gln4904Ter
XM_011538774.2:c.14701C>T	XP_011537076.1:p.Gln4901Ter
XM_011538776.2:c.14629C>T	XP_011537078.1:p.Gln4877Ter
XR_001748874.1:n.15961+550C>T
NM_003482.4:c.14713C>T MANE Select	NP_003473.3:p.Gln4905Ter