Canonical Allele Identifier: CA16042800

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 373723
• ClinVar RCV Id: RCV000414083 ; RCV000689855
• dbSNP Id: rs1057518571
• gnomAD v2: 12-49434142-G-A
• gnomAD v3: 12-49040359-G-A
• gnomAD v4: 12-49040359-G-A
• COSMIC: COSM6212167 ; COSM6212168
• MyVariant Identifiers: chr12:g.49434142G>A (hg19) ; chr12:g.49040359G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49040359G>A , CM000674.2:g.49040359G>A	GRCh38
NC_000012.11:g.49434142G>A , CM000674.1:g.49434142G>A	GRCh37
NC_000012.10:g.47720409G>A	NCBI36
NG_027827.1:g.19966C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683543.2:c.7411C>T	ENSP00000506726.1:p.Arg2471Ter
ENST00000685166.1:c.7420C>T	ENSP00000509386.1:p.Arg2474Ter
ENST00000689060.1:c.1430C>T
ENST00000689143.1:c.1084C>T	ENSP00000509839.1:p.Arg362Ter
ENST00000689944.1:c.1520C>T
ENST00000692637.1:c.7408C>T	ENSP00000509666.1:p.Arg2470Ter
ENST00000301067.12:c.7411C>T MANE Select	ENSP00000301067.7:p.Arg2471Ter
ENST00000301067.11:c.7411C>T	ENSP00000301067.7:p.Arg2471Ter
NM_003482.3:c.7411C>T	NP_003473.3:p.Arg2471Ter
XM_005269162.3:c.7411C>T	XP_005269219.1:p.Arg2471Ter
XM_006719614.2:c.7420C>T	XP_006719677.1:p.Arg2474Ter
XM_006719616.2:c.7408C>T	XP_006719679.1:p.Arg2470Ter
XM_011538770.1:c.7420C>T	XP_011537072.1:p.Arg2474Ter
XM_011538771.1:c.7417C>T	XP_011537073.1:p.Arg2473Ter
XM_011538772.1:c.7411C>T	XP_011537074.1:p.Arg2471Ter
XM_011538773.1:c.7408C>T	XP_011537075.1:p.Arg2470Ter
XM_011538774.1:c.7399C>T	XP_011537076.1:p.Arg2467Ter
XM_011538775.1:c.7420C>T	XP_011537077.1:p.Arg2474Ter
XM_011538776.1:c.7327C>T	XP_011537078.1:p.Arg2443Ter
XR_944740.1:n.9740C>T
XM_005269162.4:c.7411C>T	XP_005269219.1:p.Arg2471Ter
XM_006719614.4:c.7420C>T	XP_006719677.1:p.Arg2474Ter
XM_006719616.3:c.7408C>T	XP_006719679.1:p.Arg2470Ter
XM_011538770.2:c.7420C>T	XP_011537072.1:p.Arg2474Ter
XM_011538771.2:c.7417C>T	XP_011537073.1:p.Arg2473Ter
XM_011538772.2:c.7411C>T	XP_011537074.1:p.Arg2471Ter
XM_011538773.2:c.7408C>T	XP_011537075.1:p.Arg2470Ter
XM_011538774.2:c.7399C>T	XP_011537076.1:p.Arg2467Ter
XM_011538776.2:c.7327C>T	XP_011537078.1:p.Arg2443Ter
XR_001748874.1:n.8729C>T
NM_003482.4:c.7411C>T MANE Select	NP_003473.3:p.Arg2471Ter