Canonical Allele Identifier: CA10632919

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49033510T>C , CM000674.2:g.49033510T>C	GRCh38
NC_000012.11:g.49427293T>C , CM000674.1:g.49427293T>C	GRCh37
NC_000012.10:g.47713560T>C	NCBI36
NG_027827.1:g.26815A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.11195A>G MANE Select	NP_003473.3:p.Gln3732Arg
ENST00000301067.12:c.11195A>G MANE Select	ENSP00000301067.7:p.Gln3732Arg
NM_003482.3:c.11195A>G	NP_003473.3:p.Gln3732Arg
ENST00000301067.11:c.11195A>G	ENSP00000301067.7:p.Gln3732Arg
ENST00000683543.2:c.11195A>G	ENSP00000506726.1:p.Gln3732Arg
ENST00000685166.1:c.11204A>G	ENSP00000509386.1:p.Gln3735Arg
ENST00000685554.1:c.755A>G	ENSP00000508640.1:p.Gln252Arg
ENST00000687201.1:c.2774A>G	ENSP00000510037.1:p.Gln925Arg
ENST00000692637.1:c.11192A>G	ENSP00000509666.1:p.Gln3731Arg
ENST00000692841.1:c.2674A>G	ENSP00000508711.1:n.2674A>G
XM_005269162.3:c.11195A>G	XP_005269219.1:p.Gln3732Arg
XM_005269162.4:c.11195A>G	XP_005269219.1:p.Gln3732Arg
XM_006719614.2:c.11204A>G	XP_006719677.1:p.Gln3735Arg
XM_006719614.4:c.11204A>G	XP_006719677.1:p.Gln3735Arg
XM_006719616.2:c.11192A>G	XP_006719679.1:p.Gln3731Arg
XM_006719616.3:c.11192A>G	XP_006719679.1:p.Gln3731Arg
XM_011538770.1:c.11204A>G	XP_011537072.1:p.Gln3735Arg
XM_011538770.2:c.11204A>G	XP_011537072.1:p.Gln3735Arg
XM_011538771.1:c.11201A>G	XP_011537073.1:p.Gln3734Arg
XM_011538771.2:c.11201A>G	XP_011537073.1:p.Gln3734Arg
XM_011538772.1:c.11195A>G	XP_011537074.1:p.Gln3732Arg
XM_011538772.2:c.11195A>G	XP_011537074.1:p.Gln3732Arg
XM_011538773.1:c.11192A>G	XP_011537075.1:p.Gln3731Arg
XM_011538773.2:c.11192A>G	XP_011537075.1:p.Gln3731Arg
XM_011538774.1:c.11183A>G	XP_011537076.1:p.Gln3728Arg
XM_011538774.2:c.11183A>G	XP_011537076.1:p.Gln3728Arg
XM_011538775.1:c.11204A>G	XP_011537077.1:p.Gln3735Arg
XM_011538776.1:c.11111A>G	XP_011537078.1:p.Gln3704Arg
XM_011538776.2:c.11111A>G	XP_011537078.1:p.Gln3704Arg
XR_001748874.1:n.12513A>G
XR_944740.1:n.13524A>G