Canonical Allele Identifier: CA384716678

Gene: KMT2D

Linked Data

• dbSNP Id: rs1190074417
• gnomAD v2: 12-49426808-T-C
• gnomAD v3: 12-49033025-T-C
• gnomAD v4: 12-49033025-T-C
• MyVariant Identifiers: chr12:g.49426808T>C (hg19) ; chr12:g.49033025T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49033025T>C , CM000674.2:g.49033025T>C	GRCh38
NC_000012.11:g.49426808T>C , CM000674.1:g.49426808T>C	GRCh37
NC_000012.10:g.47713075T>C	NCBI36
NG_027827.1:g.27300A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.11680A>G	ENSP00000506726.1:p.Met3894Val
ENST00000685166.1:c.11689A>G	ENSP00000509386.1:p.Met3897Val
ENST00000685554.1:c.1240A>G	ENSP00000508640.1:p.Met414Val
ENST00000687201.1:c.3259A>G	ENSP00000510037.1:p.Met1087Val
ENST00000692637.1:c.11677A>G	ENSP00000509666.1:p.Met3893Val
ENST00000692841.1:c.3159A>G	ENSP00000508711.1:n.3159A>G
ENST00000301067.12:c.11680A>G MANE Select	ENSP00000301067.7:p.Met3894Val
ENST00000301067.11:c.11680A>G	ENSP00000301067.7:p.Met3894Val
NM_003482.3:c.11680A>G	NP_003473.3:p.Met3894Val
XM_005269162.3:c.11680A>G	XP_005269219.1:p.Met3894Val
XM_006719614.2:c.11689A>G	XP_006719677.1:p.Met3897Val
XM_006719616.2:c.11677A>G	XP_006719679.1:p.Met3893Val
XM_011538770.1:c.11689A>G	XP_011537072.1:p.Met3897Val
XM_011538771.1:c.11686A>G	XP_011537073.1:p.Met3896Val
XM_011538772.1:c.11680A>G	XP_011537074.1:p.Met3894Val
XM_011538773.1:c.11677A>G	XP_011537075.1:p.Met3893Val
XM_011538774.1:c.11668A>G	XP_011537076.1:p.Met3890Val
XM_011538775.1:c.11689A>G	XP_011537077.1:p.Met3897Val
XM_011538776.1:c.11596A>G	XP_011537078.1:p.Met3866Val
XR_944740.1:n.14009A>G
XM_005269162.4:c.11680A>G	XP_005269219.1:p.Met3894Val
XM_006719614.4:c.11689A>G	XP_006719677.1:p.Met3897Val
XM_006719616.3:c.11677A>G	XP_006719679.1:p.Met3893Val
XM_011538770.2:c.11689A>G	XP_011537072.1:p.Met3897Val
XM_011538771.2:c.11686A>G	XP_011537073.1:p.Met3896Val
XM_011538772.2:c.11680A>G	XP_011537074.1:p.Met3894Val
XM_011538773.2:c.11677A>G	XP_011537075.1:p.Met3893Val
XM_011538774.2:c.11668A>G	XP_011537076.1:p.Met3890Val
XM_011538776.2:c.11596A>G	XP_011537078.1:p.Met3866Val
XR_001748874.1:n.12998A>G
NM_003482.4:c.11680A>G MANE Select	NP_003473.3:p.Met3894Val