Canonical Allele Identifier: CA6546551

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49034825G>A , CM000674.2:g.49034825G>A	GRCh38
NC_000012.11:g.49428608G>A , CM000674.1:g.49428608G>A	GRCh37
NC_000012.10:g.47714875G>A	NCBI36
NG_027827.1:g.25500C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.10342C>T MANE Select	NP_003473.3:p.Pro3448Ser
ENST00000301067.12:c.10342C>T MANE Select	ENSP00000301067.7:p.Pro3448Ser
NM_003482.3:c.10342C>T	NP_003473.3:p.Pro3448Ser
ENST00000301067.11:c.10342C>T	ENSP00000301067.7:p.Pro3448Ser
ENST00000683543.2:c.10342C>T	ENSP00000506726.1:p.Pro3448Ser
ENST00000685166.1:c.10351C>T	ENSP00000509386.1:p.Pro3451Ser
ENST00000687201.1:c.1906C>T	ENSP00000510037.1:p.Pro636Ser
ENST00000689143.1:c.3945C>T	ENSP00000509839.1:n.3945C>T
ENST00000692637.1:c.10339C>T	ENSP00000509666.1:p.Pro3447Ser
ENST00000692841.1:c.1906C>T	ENSP00000508711.1:p.Pro636Ser
XM_005269162.3:c.10342C>T	XP_005269219.1:p.Pro3448Ser
XM_005269162.4:c.10342C>T	XP_005269219.1:p.Pro3448Ser
XM_006719614.2:c.10351C>T	XP_006719677.1:p.Pro3451Ser
XM_006719614.4:c.10351C>T	XP_006719677.1:p.Pro3451Ser
XM_006719616.2:c.10339C>T	XP_006719679.1:p.Pro3447Ser
XM_006719616.3:c.10339C>T	XP_006719679.1:p.Pro3447Ser
XM_011538770.1:c.10351C>T	XP_011537072.1:p.Pro3451Ser
XM_011538770.2:c.10351C>T	XP_011537072.1:p.Pro3451Ser
XM_011538771.1:c.10348C>T	XP_011537073.1:p.Pro3450Ser
XM_011538771.2:c.10348C>T	XP_011537073.1:p.Pro3450Ser
XM_011538772.1:c.10342C>T	XP_011537074.1:p.Pro3448Ser
XM_011538772.2:c.10342C>T	XP_011537074.1:p.Pro3448Ser
XM_011538773.1:c.10339C>T	XP_011537075.1:p.Pro3447Ser
XM_011538773.2:c.10339C>T	XP_011537075.1:p.Pro3447Ser
XM_011538774.1:c.10330C>T	XP_011537076.1:p.Pro3444Ser
XM_011538774.2:c.10330C>T	XP_011537076.1:p.Pro3444Ser
XM_011538775.1:c.10351C>T	XP_011537077.1:p.Pro3451Ser
XM_011538776.1:c.10258C>T	XP_011537078.1:p.Pro3420Ser
XM_011538776.2:c.10258C>T	XP_011537078.1:p.Pro3420Ser
XR_001748874.1:n.11660C>T
XR_944740.1:n.12671C>T