Canonical Allele Identifier: CA384726806

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 981730
• ClinVar RCV Id: RCV001261276
• dbSNP Id: rs398123700
• MyVariant Identifiers: chr12:g.49427850C>A (hg19) ; chr12:g.49034067C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49034067C>A , CM000674.2:g.49034067C>A	GRCh38
NC_000012.11:g.49427850C>A , CM000674.1:g.49427850C>A	GRCh37
NC_000012.10:g.47714117C>A	NCBI36
NG_027827.1:g.26258G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.10740G>T	ENSP00000506726.1:p.Gln3580His
ENST00000685166.1:c.10749G>T	ENSP00000509386.1:p.Gln3583His
ENST00000685554.1:c.300G>T	ENSP00000508640.1:p.Gln100His
ENST00000687201.1:c.2319G>T	ENSP00000510037.1:p.Gln773His
ENST00000692637.1:c.10737G>T	ENSP00000509666.1:p.Gln3579His
ENST00000692841.1:c.2219G>T	ENSP00000508711.1:n.2219G>T
ENST00000301067.12:c.10740G>T MANE Select	ENSP00000301067.7:p.Gln3580His
ENST00000301067.11:c.10740G>T	ENSP00000301067.7:p.Gln3580His
NM_003482.3:c.10740G>T	NP_003473.3:p.Gln3580His
XM_005269162.3:c.10740G>T	XP_005269219.1:p.Gln3580His
XM_006719614.2:c.10749G>T	XP_006719677.1:p.Gln3583His
XM_006719616.2:c.10737G>T	XP_006719679.1:p.Gln3579His
XM_011538770.1:c.10749G>T	XP_011537072.1:p.Gln3583His
XM_011538771.1:c.10746G>T	XP_011537073.1:p.Gln3582His
XM_011538772.1:c.10740G>T	XP_011537074.1:p.Gln3580His
XM_011538773.1:c.10737G>T	XP_011537075.1:p.Gln3579His
XM_011538774.1:c.10728G>T	XP_011537076.1:p.Gln3576His
XM_011538775.1:c.10749G>T	XP_011537077.1:p.Gln3583His
XM_011538776.1:c.10656G>T	XP_011537078.1:p.Gln3552His
XR_944740.1:n.13069G>T
XM_005269162.4:c.10740G>T	XP_005269219.1:p.Gln3580His
XM_006719614.4:c.10749G>T	XP_006719677.1:p.Gln3583His
XM_006719616.3:c.10737G>T	XP_006719679.1:p.Gln3579His
XM_011538770.2:c.10749G>T	XP_011537072.1:p.Gln3583His
XM_011538771.2:c.10746G>T	XP_011537073.1:p.Gln3582His
XM_011538772.2:c.10740G>T	XP_011537074.1:p.Gln3580His
XM_011538773.2:c.10737G>T	XP_011537075.1:p.Gln3579His
XM_011538774.2:c.10728G>T	XP_011537076.1:p.Gln3576His
XM_011538776.2:c.10656G>T	XP_011537078.1:p.Gln3552His
XR_001748874.1:n.12058G>T
NM_003482.4:c.10740G>T MANE Select	NP_003473.3:p.Gln3580His