Canonical Allele Identifier: CA384717088

Gene: KMT2D

Linked Data

• dbSNP Id: rs2120438517
• gnomAD v4: 12-49033074-C-A
• MyVariant Identifiers: chr12:g.49426857C>A (hg19) ; chr12:g.49033074C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49033074C>A , CM000674.2:g.49033074C>A	GRCh38
NC_000012.11:g.49426857C>A , CM000674.1:g.49426857C>A	GRCh37
NC_000012.10:g.47713124C>A	NCBI36
NG_027827.1:g.27251G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.11631G>T	ENSP00000506726.1:p.Gln3877His
ENST00000685166.1:c.11640G>T	ENSP00000509386.1:p.Gln3880His
ENST00000685554.1:c.1191G>T	ENSP00000508640.1:p.Gln397His
ENST00000687201.1:c.3210G>T	ENSP00000510037.1:p.Gln1070His
ENST00000692637.1:c.11628G>T	ENSP00000509666.1:p.Gln3876His
ENST00000692841.1:c.3110G>T	ENSP00000508711.1:n.3110G>T
ENST00000301067.12:c.11631G>T MANE Select	ENSP00000301067.7:p.Gln3877His
ENST00000301067.11:c.11631G>T	ENSP00000301067.7:p.Gln3877His
NM_003482.3:c.11631G>T	NP_003473.3:p.Gln3877His
XM_005269162.3:c.11631G>T	XP_005269219.1:p.Gln3877His
XM_006719614.2:c.11640G>T	XP_006719677.1:p.Gln3880His
XM_006719616.2:c.11628G>T	XP_006719679.1:p.Gln3876His
XM_011538770.1:c.11640G>T	XP_011537072.1:p.Gln3880His
XM_011538771.1:c.11637G>T	XP_011537073.1:p.Gln3879His
XM_011538772.1:c.11631G>T	XP_011537074.1:p.Gln3877His
XM_011538773.1:c.11628G>T	XP_011537075.1:p.Gln3876His
XM_011538774.1:c.11619G>T	XP_011537076.1:p.Gln3873His
XM_011538775.1:c.11640G>T	XP_011537077.1:p.Gln3880His
XM_011538776.1:c.11547G>T	XP_011537078.1:p.Gln3849His
XR_944740.1:n.13960G>T
XM_005269162.4:c.11631G>T	XP_005269219.1:p.Gln3877His
XM_006719614.4:c.11640G>T	XP_006719677.1:p.Gln3880His
XM_006719616.3:c.11628G>T	XP_006719679.1:p.Gln3876His
XM_011538770.2:c.11640G>T	XP_011537072.1:p.Gln3880His
XM_011538771.2:c.11637G>T	XP_011537073.1:p.Gln3879His
XM_011538772.2:c.11631G>T	XP_011537074.1:p.Gln3877His
XM_011538773.2:c.11628G>T	XP_011537075.1:p.Gln3876His
XM_011538774.2:c.11619G>T	XP_011537076.1:p.Gln3873His
XM_011538776.2:c.11547G>T	XP_011537078.1:p.Gln3849His
XR_001748874.1:n.12949G>T
NM_003482.4:c.11631G>T MANE Select	NP_003473.3:p.Gln3877His