Canonical Allele Identifier: CA384682001

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49418468T>A (hg19) ; chr12:g.49024685T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024685T>A , CM000674.2:g.49024685T>A	GRCh38
NC_000012.11:g.49418468T>A , CM000674.1:g.49418468T>A	GRCh37
NC_000012.10:g.47704735T>A	NCBI36
NG_027827.1:g.35640A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.617A>T
ENST00000683543.2:c.15945A>T	ENSP00000506726.1:p.Gln5315His
ENST00000683863.1:n.1660A>T
ENST00000684428.1:c.480A>T	ENSP00000507433.1:p.Gln160His
ENST00000684755.1:n.480A>T
ENST00000685024.1:c.1099A>T
ENST00000685166.1:c.15954A>T	ENSP00000509386.1:p.Gln5318His
ENST00000688411.1:c.422A>T	ENSP00000510146.1:n.422A>T
ENST00000691932.1:c.24A>T	ENSP00000509037.1:p.Gln8His
ENST00000692637.1:c.15942A>T	ENSP00000509666.1:p.Gln5314His
ENST00000301067.12:c.15945A>T MANE Select	ENSP00000301067.7:p.Gln5315His
ENST00000301067.11:c.15945A>T	ENSP00000301067.7:p.Gln5315His
NM_003482.3:c.15945A>T	NP_003473.3:p.Gln5315His
XM_005269162.3:c.15945A>T	XP_005269219.1:p.Gln5315His
XM_006719614.2:c.15954A>T	XP_006719677.1:p.Gln5318His
XM_006719616.2:c.15942A>T	XP_006719679.1:p.Gln5314His
XM_011538770.1:c.15954A>T	XP_011537072.1:p.Gln5318His
XM_011538771.1:c.15951A>T	XP_011537073.1:p.Gln5317His
XM_011538772.1:c.15945A>T	XP_011537074.1:p.Gln5315His
XM_011538773.1:c.15942A>T	XP_011537075.1:p.Gln5314His
XM_011538774.1:c.15933A>T	XP_011537076.1:p.Gln5311His
XM_011538775.1:c.15888A>T	XP_011537077.1:p.Gln5296His
XM_011538776.1:c.15861A>T	XP_011537078.1:p.Gln5287His
XM_005269162.4:c.15945A>T	XP_005269219.1:p.Gln5315His
XM_006719614.4:c.15954A>T	XP_006719677.1:p.Gln5318His
XM_006719616.3:c.15942A>T	XP_006719679.1:p.Gln5314His
XM_011538770.2:c.15954A>T	XP_011537072.1:p.Gln5318His
XM_011538771.2:c.15951A>T	XP_011537073.1:p.Gln5317His
XM_011538772.2:c.15945A>T	XP_011537074.1:p.Gln5315His
XM_011538773.2:c.15942A>T	XP_011537075.1:p.Gln5314His
XM_011538774.2:c.15933A>T	XP_011537076.1:p.Gln5311His
XM_011538776.2:c.15861A>T	XP_011537078.1:p.Gln5287His
XR_001748874.1:n.16122A>T
NM_003482.4:c.15945A>T MANE Select	NP_003473.3:p.Gln5315His