Canonical Allele Identifier: CA6546108

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 1364395
• ClinVar RCV Id: RCV001905374 ; RCV002222734
• dbSNP Id: rs377128722
• ExAC: 12:49425595 G / A
• gnomAD v2: 12-49425595-G-A
• gnomAD v3: 12-49031812-G-A
• gnomAD v4: 12-49031812-G-A
• MyVariant Identifiers: chr12:g.49425595G>A (hg19) ; chr12:g.49031812G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49031812G>A , CM000674.2:g.49031812G>A	GRCh38
NC_000012.11:g.49425595G>A , CM000674.1:g.49425595G>A	GRCh37
NC_000012.10:g.47711862G>A	NCBI36
NG_027827.1:g.28513C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.12893C>T	ENSP00000506726.1:p.Thr4298Ile
ENST00000685166.1:c.12902C>T	ENSP00000509386.1:p.Thr4301Ile
ENST00000685554.1:c.1753-500C>T	ENSP00000508640.1:n.1753-500C>T
ENST00000692637.1:c.12890C>T	ENSP00000509666.1:p.Thr4297Ile
ENST00000692841.1:c.4372C>T	ENSP00000508711.1:n.4372C>T
ENST00000301067.12:c.12893C>T MANE Select	ENSP00000301067.7:p.Thr4298Ile
ENST00000301067.11:c.12893C>T	ENSP00000301067.7:p.Thr4298Ile
NM_003482.3:c.12893C>T	NP_003473.3:p.Thr4298Ile
XM_005269162.3:c.12893C>T	XP_005269219.1:p.Thr4298Ile
XM_006719614.2:c.12902C>T	XP_006719677.1:p.Thr4301Ile
XM_006719616.2:c.12890C>T	XP_006719679.1:p.Thr4297Ile
XM_011538770.1:c.12902C>T	XP_011537072.1:p.Thr4301Ile
XM_011538771.1:c.12899C>T	XP_011537073.1:p.Thr4300Ile
XM_011538772.1:c.12893C>T	XP_011537074.1:p.Thr4298Ile
XM_011538773.1:c.12890C>T	XP_011537075.1:p.Thr4297Ile
XM_011538774.1:c.12881C>T	XP_011537076.1:p.Thr4294Ile
XM_011538775.1:c.12902C>T	XP_011537077.1:p.Thr4301Ile
XM_011538776.1:c.12809C>T	XP_011537078.1:p.Thr4270Ile
XR_944740.1:n.15222C>T
XM_005269162.4:c.12893C>T	XP_005269219.1:p.Thr4298Ile
XM_006719614.4:c.12902C>T	XP_006719677.1:p.Thr4301Ile
XM_006719616.3:c.12890C>T	XP_006719679.1:p.Thr4297Ile
XM_011538770.2:c.12902C>T	XP_011537072.1:p.Thr4301Ile
XM_011538771.2:c.12899C>T	XP_011537073.1:p.Thr4300Ile
XM_011538772.2:c.12893C>T	XP_011537074.1:p.Thr4298Ile
XM_011538773.2:c.12890C>T	XP_011537075.1:p.Thr4297Ile
XM_011538774.2:c.12881C>T	XP_011537076.1:p.Thr4294Ile
XM_011538776.2:c.12809C>T	XP_011537078.1:p.Thr4270Ile
XR_001748874.1:n.14211C>T
NM_003482.4:c.12893C>T MANE Select	NP_003473.3:p.Thr4298Ile