Canonical Allele Identifier: CA6546165

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49032041G>C , CM000674.2:g.49032041G>C	GRCh38
NC_000012.11:g.49425824G>C , CM000674.1:g.49425824G>C	GRCh37
NC_000012.10:g.47712091G>C	NCBI36
NG_027827.1:g.28284C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.12664C>G MANE Select	NP_003473.3:p.Leu4222Val
ENST00000301067.12:c.12664C>G MANE Select	ENSP00000301067.7:p.Leu4222Val
NM_003482.3:c.12664C>G	NP_003473.3:p.Leu4222Val
ENST00000301067.11:c.12664C>G	ENSP00000301067.7:p.Leu4222Val
ENST00000683543.2:c.12664C>G	ENSP00000506726.1:p.Leu4222Val
ENST00000685166.1:c.12673C>G	ENSP00000509386.1:p.Leu4225Val
ENST00000685554.1:c.1752+472C>G	ENSP00000508640.1:n.1752+472C>G
ENST00000692637.1:c.12661C>G	ENSP00000509666.1:p.Leu4221Val
ENST00000692841.1:c.4143C>G	ENSP00000508711.1:n.4143C>G
XM_005269162.3:c.12664C>G	XP_005269219.1:p.Leu4222Val
XM_005269162.4:c.12664C>G	XP_005269219.1:p.Leu4222Val
XM_006719614.2:c.12673C>G	XP_006719677.1:p.Leu4225Val
XM_006719614.4:c.12673C>G	XP_006719677.1:p.Leu4225Val
XM_006719616.2:c.12661C>G	XP_006719679.1:p.Leu4221Val
XM_006719616.3:c.12661C>G	XP_006719679.1:p.Leu4221Val
XM_011538770.1:c.12673C>G	XP_011537072.1:p.Leu4225Val
XM_011538770.2:c.12673C>G	XP_011537072.1:p.Leu4225Val
XM_011538771.1:c.12670C>G	XP_011537073.1:p.Leu4224Val
XM_011538771.2:c.12670C>G	XP_011537073.1:p.Leu4224Val
XM_011538772.1:c.12664C>G	XP_011537074.1:p.Leu4222Val
XM_011538772.2:c.12664C>G	XP_011537074.1:p.Leu4222Val
XM_011538773.1:c.12661C>G	XP_011537075.1:p.Leu4221Val
XM_011538773.2:c.12661C>G	XP_011537075.1:p.Leu4221Val
XM_011538774.1:c.12652C>G	XP_011537076.1:p.Leu4218Val
XM_011538774.2:c.12652C>G	XP_011537076.1:p.Leu4218Val
XM_011538775.1:c.12673C>G	XP_011537077.1:p.Leu4225Val
XM_011538776.1:c.12580C>G	XP_011537078.1:p.Leu4194Val
XM_011538776.2:c.12580C>G	XP_011537078.1:p.Leu4194Val
XR_001748874.1:n.13982C>G
XR_944740.1:n.14993C>G