Canonical Allele Identifier: CA479707972

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49031814-A-G
• MyVariant Identifiers: chr12:g.49425597A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49031814A>G , CM000674.2:g.49031814A>G	GRCh38
NC_000012.11:g.49425597A>G , CM000674.1:g.49425597A>G	GRCh37
NC_000012.10:g.47711864A>G	NCBI36
NG_027827.1:g.28511T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683543.2:c.12891T>C	ENSP00000506726.1:p.Ser4297=
ENST00000685166.1:c.12900T>C	ENSP00000509386.1:p.Ser4300=
ENST00000685554.1:c.1753-502T>C	ENSP00000508640.1:n.1753-502T>C
ENST00000692637.1:c.12888T>C	ENSP00000509666.1:p.Ser4296=
ENST00000692841.1:c.4370T>C	ENSP00000508711.1:n.4370T>C
ENST00000301067.12:c.12891T>C MANE Select	ENSP00000301067.7:p.Ser4297=
ENST00000301067.11:c.12891T>C	ENSP00000301067.7:p.Ser4297=
NM_003482.3:c.12891T>C	NP_003473.3:p.Ser4297=
XM_005269162.3:c.12891T>C	XP_005269219.1:p.Ser4297=
XM_006719614.2:c.12900T>C	XP_006719677.1:p.Ser4300=
XM_006719616.2:c.12888T>C	XP_006719679.1:p.Ser4296=
XM_011538770.1:c.12900T>C	XP_011537072.1:p.Ser4300=
XM_011538771.1:c.12897T>C	XP_011537073.1:p.Ser4299=
XM_011538772.1:c.12891T>C	XP_011537074.1:p.Ser4297=
XM_011538773.1:c.12888T>C	XP_011537075.1:p.Ser4296=
XM_011538774.1:c.12879T>C	XP_011537076.1:p.Ser4293=
XM_011538775.1:c.12900T>C	XP_011537077.1:p.Ser4300=
XM_011538776.1:c.12807T>C	XP_011537078.1:p.Ser4269=
XR_944740.1:n.15220T>C
XM_005269162.4:c.12891T>C	XP_005269219.1:p.Ser4297=
XM_006719614.4:c.12900T>C	XP_006719677.1:p.Ser4300=
XM_006719616.3:c.12888T>C	XP_006719679.1:p.Ser4296=
XM_011538770.2:c.12900T>C	XP_011537072.1:p.Ser4300=
XM_011538771.2:c.12897T>C	XP_011537073.1:p.Ser4299=
XM_011538772.2:c.12891T>C	XP_011537074.1:p.Ser4297=
XM_011538773.2:c.12888T>C	XP_011537075.1:p.Ser4296=
XM_011538774.2:c.12879T>C	XP_011537076.1:p.Ser4293=
XM_011538776.2:c.12807T>C	XP_011537078.1:p.Ser4269=
XR_001748874.1:n.14209T>C
NM_003482.4:c.12891T>C MANE Select	NP_003473.3:p.Ser4297=