Canonical Allele Identifier: CA236639197

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 531894
• ClinVar RCV Id: RCV000638446 ; RCV001816585 ; RCV003133424
• dbSNP Id: rs905791071
• gnomAD v4: 12-49032000-C-T
• MyVariant Identifiers: chr12:g.49425783C>T (hg19) ; chr12:g.49032000C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49032000C>T , CM000674.2:g.49032000C>T	GRCh38
NC_000012.11:g.49425783C>T , CM000674.1:g.49425783C>T	GRCh37
NC_000012.10:g.47712050C>T	NCBI36
NG_027827.1:g.28325G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.12705G>A	ENSP00000506726.1:p.Gln4235=
ENST00000685166.1:c.12714G>A	ENSP00000509386.1:p.Gln4238=
ENST00000685554.1:c.1752+513G>A	ENSP00000508640.1:n.1752+513G>A
ENST00000692637.1:c.12702G>A	ENSP00000509666.1:p.Gln4234=
ENST00000692841.1:c.4184G>A	ENSP00000508711.1:n.4184G>A
ENST00000301067.12:c.12705G>A MANE Select	ENSP00000301067.7:p.Gln4235=
ENST00000301067.11:c.12705G>A	ENSP00000301067.7:p.Gln4235=
NM_003482.3:c.12705G>A	NP_003473.3:p.Gln4235=
XM_005269162.3:c.12705G>A	XP_005269219.1:p.Gln4235=
XM_006719614.2:c.12714G>A	XP_006719677.1:p.Gln4238=
XM_006719616.2:c.12702G>A	XP_006719679.1:p.Gln4234=
XM_011538770.1:c.12714G>A	XP_011537072.1:p.Gln4238=
XM_011538771.1:c.12711G>A	XP_011537073.1:p.Gln4237=
XM_011538772.1:c.12705G>A	XP_011537074.1:p.Gln4235=
XM_011538773.1:c.12702G>A	XP_011537075.1:p.Gln4234=
XM_011538774.1:c.12693G>A	XP_011537076.1:p.Gln4231=
XM_011538775.1:c.12714G>A	XP_011537077.1:p.Gln4238=
XM_011538776.1:c.12621G>A	XP_011537078.1:p.Gln4207=
XR_944740.1:n.15034G>A
XM_005269162.4:c.12705G>A	XP_005269219.1:p.Gln4235=
XM_006719614.4:c.12714G>A	XP_006719677.1:p.Gln4238=
XM_006719616.3:c.12702G>A	XP_006719679.1:p.Gln4234=
XM_011538770.2:c.12714G>A	XP_011537072.1:p.Gln4238=
XM_011538771.2:c.12711G>A	XP_011537073.1:p.Gln4237=
XM_011538772.2:c.12705G>A	XP_011537074.1:p.Gln4235=
XM_011538773.2:c.12702G>A	XP_011537075.1:p.Gln4234=
XM_011538774.2:c.12693G>A	XP_011537076.1:p.Gln4231=
XM_011538776.2:c.12621G>A	XP_011537078.1:p.Gln4207=
XR_001748874.1:n.14023G>A
NM_003482.4:c.12705G>A MANE Select	NP_003473.3:p.Gln4235=