Canonical Allele Identifier: CA2618608341

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49039370-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039370A>G , CM000674.2:g.49039370A>G	GRCh38
NC_000012.11:g.49433153A>G , CM000674.1:g.49433153A>G	GRCh37
NC_000012.10:g.47719420A>G	NCBI36
NG_027827.1:g.20955T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8230-12T>C	ENSP00000506726.1:n.8230-12T>C
ENST00000685166.1:c.8239-12T>C	ENSP00000509386.1:n.8239-12T>C
ENST00000689060.1:c.2249-12T>C
ENST00000689143.1:c.1903-12T>C	ENSP00000509839.1:n.1903-12T>C
ENST00000689944.1:c.2339-12T>C
ENST00000692637.1:c.8227-12T>C	ENSP00000509666.1:n.8227-12T>C
ENST00000301067.12:c.8230-12T>C MANE Select	ENSP00000301067.7:n.8230-12T>C
ENST00000301067.11:c.8230-12T>C	ENSP00000301067.7:n.8230-12T>C
NM_003482.3:c.8230-12T>C	NP_003473.3:n.8230-12T>C
XM_005269162.3:c.8230-12T>C	XP_005269219.1:n.8230-12T>C
XM_006719614.2:c.8239-12T>C	XP_006719677.1:n.8239-12T>C
XM_006719616.2:c.8227-12T>C	XP_006719679.1:n.8227-12T>C
XM_011538770.1:c.8239-12T>C	XP_011537072.1:n.8239-12T>C
XM_011538771.1:c.8236-12T>C	XP_011537073.1:n.8236-12T>C
XM_011538772.1:c.8230-12T>C	XP_011537074.1:n.8230-12T>C
XM_011538773.1:c.8227-12T>C	XP_011537075.1:n.8227-12T>C
XM_011538774.1:c.8218-12T>C	XP_011537076.1:n.8218-12T>C
XM_011538775.1:c.8239-12T>C	XP_011537077.1:n.8239-12T>C
XM_011538776.1:c.8146-12T>C	XP_011537078.1:n.8146-12T>C
XR_944740.1:n.10559-12T>C
XM_005269162.4:c.8230-12T>C	XP_005269219.1:n.8230-12T>C
XM_006719614.4:c.8239-12T>C	XP_006719677.1:n.8239-12T>C
XM_006719616.3:c.8227-12T>C	XP_006719679.1:n.8227-12T>C
XM_011538770.2:c.8239-12T>C	XP_011537072.1:n.8239-12T>C
XM_011538771.2:c.8236-12T>C	XP_011537073.1:n.8236-12T>C
XM_011538772.2:c.8230-12T>C	XP_011537074.1:n.8230-12T>C
XM_011538773.2:c.8227-12T>C	XP_011537075.1:n.8227-12T>C
XM_011538774.2:c.8218-12T>C	XP_011537076.1:n.8218-12T>C
XM_011538776.2:c.8146-12T>C	XP_011537078.1:n.8146-12T>C
XR_001748874.1:n.9548-12T>C
NM_003482.4:c.8230-12T>C MANE Select	NP_003473.3:n.8230-12T>C