Canonical Allele Identifier: CA6545381

Gene: KMT2D

Linked Data

• dbSNP Id: rs764241509
• ExAC: 12:49416060 C / T
• gnomAD v2: 12-49416060-C-T
• MyVariant Identifiers: chr12:g.49416060C>T (hg19) ; chr12:g.49022277C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022277C>T , CM000674.2:g.49022277C>T	GRCh38
NC_000012.11:g.49416060C>T , CM000674.1:g.49416060C>T	GRCh37
NC_000012.10:g.47702327C>T	NCBI36
NG_027827.1:g.38048G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.382+3G>A
ENST00000681974.1:n.1084+3G>A
ENST00000682693.1:n.2046+3G>A
ENST00000682886.1:n.818+3G>A
ENST00000683543.2:c.16460+3G>A	ENSP00000506726.1:n.16460+3G>A
ENST00000683988.1:c.383+3G>A	ENSP00000506939.1:n.383+3G>A
ENST00000684428.1:c.1005+3G>A	ENSP00000507433.1:n.1005+3G>A
ENST00000685024.1:c.1566+3G>A
ENST00000685166.1:c.16421+3G>A	ENSP00000509386.1:n.16421+3G>A
ENST00000691932.1:c.413+3G>A	ENSP00000509037.1:n.413+3G>A
ENST00000692637.1:c.16409+3G>A	ENSP00000509666.1:n.16409+3G>A
ENST00000301067.12:c.16412+3G>A MANE Select	ENSP00000301067.7:n.16412+3G>A
ENST00000301067.11:c.16412+3G>A	ENSP00000301067.7:n.16412+3G>A
ENST00000526209.1:c.455+3G>A	ENSP00000435714.1:n.455+3G>A
NM_003482.3:c.16412+3G>A	NP_003473.3:n.16412+3G>A
XM_005269162.3:c.16412+3G>A	XP_005269219.1:n.16412+3G>A
XM_006719614.2:c.16421+3G>A	XP_006719677.1:n.16421+3G>A
XM_006719616.2:c.16409+3G>A	XP_006719679.1:n.16409+3G>A
XM_011538770.1:c.16469+3G>A	XP_011537072.1:n.16469+3G>A
XM_011538771.1:c.16466+3G>A	XP_011537073.1:n.16466+3G>A
XM_011538772.1:c.16460+3G>A	XP_011537074.1:n.16460+3G>A
XM_011538773.1:c.16457+3G>A	XP_011537075.1:n.16457+3G>A
XM_011538774.1:c.16448+3G>A	XP_011537076.1:n.16448+3G>A
XM_011538775.1:c.16403+3G>A	XP_011537077.1:n.16403+3G>A
XM_011538776.1:c.16376+3G>A	XP_011537078.1:n.16376+3G>A
XM_005269162.4:c.16412+3G>A	XP_005269219.1:n.16412+3G>A
XM_006719614.4:c.16421+3G>A	XP_006719677.1:n.16421+3G>A
XM_006719616.3:c.16409+3G>A	XP_006719679.1:n.16409+3G>A
XM_011538770.2:c.16469+3G>A	XP_011537072.1:n.16469+3G>A
XM_011538771.2:c.16466+3G>A	XP_011537073.1:n.16466+3G>A
XM_011538772.2:c.16460+3G>A	XP_011537074.1:n.16460+3G>A
XM_011538773.2:c.16457+3G>A	XP_011537075.1:n.16457+3G>A
XM_011538774.2:c.16448+3G>A	XP_011537076.1:n.16448+3G>A
XM_011538776.2:c.16376+3G>A	XP_011537078.1:n.16376+3G>A
XR_001748874.1:n.16589+3G>A
NM_003482.4:c.16412+3G>A MANE Select	NP_003473.3:n.16412+3G>A