Canonical Allele Identifier: CA6548161

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 286331
• ClinVar RCV Id: RCV000316495 ; RCV001444830 ; RCV004543082
• dbSNP Id: rs369436545
• ExAC: 12:49444524 C / T
• gnomAD v2: 12-49444524-C-T
• gnomAD v3: 12-49050741-C-T
• gnomAD v4: 12-49050741-C-T
• MyVariant Identifiers: chr12:g.49444524C>T (hg19) ; chr12:g.49050741C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49050741C>T , CM000674.2:g.49050741C>T	GRCh38
NC_000012.11:g.49444524C>T , CM000674.1:g.49444524C>T	GRCh37
NC_000012.10:g.47730791C>T	NCBI36
NG_027827.1:g.9584G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.2847G>A	ENSP00000506726.1:p.Pro949=
ENST00000685166.1:c.2847G>A	ENSP00000509386.1:p.Pro949=
ENST00000692637.1:c.2847G>A	ENSP00000509666.1:p.Pro949=
ENST00000301067.12:c.2847G>A MANE Select	ENSP00000301067.7:p.Pro949=
ENST00000301067.11:c.2847G>A	ENSP00000301067.7:p.Pro949=
NM_003482.3:c.2847G>A	NP_003473.3:p.Pro949=
XM_005269162.3:c.2847G>A	XP_005269219.1:p.Pro949=
XM_006719614.2:c.2847G>A	XP_006719677.1:p.Pro949=
XM_006719616.2:c.2847G>A	XP_006719679.1:p.Pro949=
XM_011538770.1:c.2847G>A	XP_011537072.1:p.Pro949=
XM_011538771.1:c.2847G>A	XP_011537073.1:p.Pro949=
XM_011538772.1:c.2847G>A	XP_011537074.1:p.Pro949=
XM_011538773.1:c.2847G>A	XP_011537075.1:p.Pro949=
XM_011538774.1:c.2847G>A	XP_011537076.1:p.Pro949=
XM_011538775.1:c.2847G>A	XP_011537077.1:p.Pro949=
XM_011538776.1:c.2847G>A	XP_011537078.1:p.Pro949=
XR_944740.1:n.5167G>A
XM_005269162.4:c.2847G>A	XP_005269219.1:p.Pro949=
XM_006719614.4:c.2847G>A	XP_006719677.1:p.Pro949=
XM_006719616.3:c.2847G>A	XP_006719679.1:p.Pro949=
XM_011538770.2:c.2847G>A	XP_011537072.1:p.Pro949=
XM_011538771.2:c.2847G>A	XP_011537073.1:p.Pro949=
XM_011538772.2:c.2847G>A	XP_011537074.1:p.Pro949=
XM_011538773.2:c.2847G>A	XP_011537075.1:p.Pro949=
XM_011538774.2:c.2847G>A	XP_011537076.1:p.Pro949=
XM_011538776.2:c.2847G>A	XP_011537078.1:p.Pro949=
XR_001748874.1:n.4156G>A
NM_003482.4:c.2847G>A MANE Select	NP_003473.3:p.Pro949=