Canonical Allele Identifier: CA384677494

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49022618-T-A
• MyVariant Identifiers: chr12:g.49416401T>A (hg19) ; chr12:g.49022618T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022618T>A , CM000674.2:g.49022618T>A	GRCh38
NC_000012.11:g.49416401T>A , CM000674.1:g.49416401T>A	GRCh37
NC_000012.10:g.47702668T>A	NCBI36
NG_027827.1:g.37707A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.280A>T
ENST00000681974.1:n.982A>T
ENST00000682693.1:n.1944A>T
ENST00000682886.1:n.480A>T
ENST00000683543.2:c.16358A>T	ENSP00000506726.1:p.Asn5453Ile
ENST00000683988.1:c.281A>T	ENSP00000506939.1:p.Asn94Ile
ENST00000684428.1:c.845A>T	ENSP00000507433.1:p.Asn282Ile
ENST00000684755.1:n.893A>T
ENST00000685024.1:c.1464A>T
ENST00000685166.1:c.16319A>T	ENSP00000509386.1:p.Asn5440Ile
ENST00000688411.1:c.787A>T	ENSP00000510146.1:n.787A>T
ENST00000691932.1:c.311A>T	ENSP00000509037.1:p.Asn104Ile
ENST00000692637.1:c.16307A>T	ENSP00000509666.1:p.Asn5436Ile
ENST00000301067.12:c.16310A>T MANE Select	ENSP00000301067.7:p.Asn5437Ile
ENST00000301067.11:c.16310A>T	ENSP00000301067.7:p.Asn5437Ile
ENST00000526209.1:c.353A>T	ENSP00000435714.1:p.Asn118Ile
NM_003482.3:c.16310A>T	NP_003473.3:p.Asn5437Ile
XM_005269162.3:c.16310A>T	XP_005269219.1:p.Asn5437Ile
XM_006719614.2:c.16319A>T	XP_006719677.1:p.Asn5440Ile
XM_006719616.2:c.16307A>T	XP_006719679.1:p.Asn5436Ile
XM_011538770.1:c.16367A>T	XP_011537072.1:p.Asn5456Ile
XM_011538771.1:c.16364A>T	XP_011537073.1:p.Asn5455Ile
XM_011538772.1:c.16358A>T	XP_011537074.1:p.Asn5453Ile
XM_011538773.1:c.16355A>T	XP_011537075.1:p.Asn5452Ile
XM_011538774.1:c.16346A>T	XP_011537076.1:p.Asn5449Ile
XM_011538775.1:c.16301A>T	XP_011537077.1:p.Asn5434Ile
XM_011538776.1:c.16274A>T	XP_011537078.1:p.Asn5425Ile
XM_005269162.4:c.16310A>T	XP_005269219.1:p.Asn5437Ile
XM_006719614.4:c.16319A>T	XP_006719677.1:p.Asn5440Ile
XM_006719616.3:c.16307A>T	XP_006719679.1:p.Asn5436Ile
XM_011538770.2:c.16367A>T	XP_011537072.1:p.Asn5456Ile
XM_011538771.2:c.16364A>T	XP_011537073.1:p.Asn5455Ile
XM_011538772.2:c.16358A>T	XP_011537074.1:p.Asn5453Ile
XM_011538773.2:c.16355A>T	XP_011537075.1:p.Asn5452Ile
XM_011538774.2:c.16346A>T	XP_011537076.1:p.Asn5449Ile
XM_011538776.2:c.16274A>T	XP_011537078.1:p.Asn5425Ile
XR_001748874.1:n.16487A>T
NM_003482.4:c.16310A>T MANE Select	NP_003473.3:p.Asn5437Ile