Canonical Allele Identifier: CA384708141

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 463004
• ClinVar RCV Id: RCV000548396
• dbSNP Id: rs1555187758
• MyVariant Identifiers: chr12:g.49425503G>A (hg19) ; chr12:g.49031720G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49031720G>A , CM000674.2:g.49031720G>A	GRCh38
NC_000012.11:g.49425503G>A , CM000674.1:g.49425503G>A	GRCh37
NC_000012.10:g.47711770G>A	NCBI36
NG_027827.1:g.28605C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.12985C>T	ENSP00000506726.1:p.Gln4329Ter
ENST00000685166.1:c.12994C>T	ENSP00000509386.1:p.Gln4332Ter
ENST00000685554.1:c.1753-408C>T	ENSP00000508640.1:n.1753-408C>T
ENST00000692637.1:c.12982C>T	ENSP00000509666.1:p.Gln4328Ter
ENST00000692841.1:c.4464C>T	ENSP00000508711.1:n.4464C>T
ENST00000301067.12:c.12985C>T MANE Select	ENSP00000301067.7:p.Gln4329Ter
ENST00000301067.11:c.12985C>T	ENSP00000301067.7:p.Gln4329Ter
NM_003482.3:c.12985C>T	NP_003473.3:p.Gln4329Ter
XM_005269162.3:c.12985C>T	XP_005269219.1:p.Gln4329Ter
XM_006719614.2:c.12994C>T	XP_006719677.1:p.Gln4332Ter
XM_006719616.2:c.12982C>T	XP_006719679.1:p.Gln4328Ter
XM_011538770.1:c.12994C>T	XP_011537072.1:p.Gln4332Ter
XM_011538771.1:c.12991C>T	XP_011537073.1:p.Gln4331Ter
XM_011538772.1:c.12985C>T	XP_011537074.1:p.Gln4329Ter
XM_011538773.1:c.12982C>T	XP_011537075.1:p.Gln4328Ter
XM_011538774.1:c.12973C>T	XP_011537076.1:p.Gln4325Ter
XM_011538775.1:c.12994C>T	XP_011537077.1:p.Gln4332Ter
XM_011538776.1:c.12901C>T	XP_011537078.1:p.Gln4301Ter
XR_944740.1:n.15314C>T
XM_005269162.4:c.12985C>T	XP_005269219.1:p.Gln4329Ter
XM_006719614.4:c.12994C>T	XP_006719677.1:p.Gln4332Ter
XM_006719616.3:c.12982C>T	XP_006719679.1:p.Gln4328Ter
XM_011538770.2:c.12994C>T	XP_011537072.1:p.Gln4332Ter
XM_011538771.2:c.12991C>T	XP_011537073.1:p.Gln4331Ter
XM_011538772.2:c.12985C>T	XP_011537074.1:p.Gln4329Ter
XM_011538773.2:c.12982C>T	XP_011537075.1:p.Gln4328Ter
XM_011538774.2:c.12973C>T	XP_011537076.1:p.Gln4325Ter
XM_011538776.2:c.12901C>T	XP_011537078.1:p.Gln4301Ter
XR_001748874.1:n.14303C>T
NM_003482.4:c.12985C>T MANE Select	NP_003473.3:p.Gln4329Ter