Canonical Allele Identifier: CA384703585

Gene: KMT2D

Linked Data

• dbSNP Id: rs1173696978
• gnomAD v2: 12-49424774-C-T
• gnomAD v4: 12-49030991-C-T
• MyVariant Identifiers: chr12:g.49424774C>T (hg19) ; chr12:g.49030991C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49030991C>T , CM000674.2:g.49030991C>T	GRCh38
NC_000012.11:g.49424774C>T , CM000674.1:g.49424774C>T	GRCh37
NC_000012.10:g.47711041C>T	NCBI36
NG_027827.1:g.29334G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.273G>A
ENST00000683543.2:c.13573G>A	ENSP00000506726.1:p.Val4525Ile
ENST00000685166.1:c.13582G>A	ENSP00000509386.1:p.Val4528Ile
ENST00000685982.1:c.138+184G>A	ENSP00000508613.1:n.138+184G>A
ENST00000691986.1:c.138+184G>A	ENSP00000509196.1:n.138+184G>A
ENST00000692637.1:c.13570G>A	ENSP00000509666.1:p.Val4524Ile
ENST00000692973.1:c.174G>A	ENSP00000508893.1:n.174G>A
ENST00000301067.12:c.13573G>A MANE Select	ENSP00000301067.7:p.Val4525Ile
ENST00000301067.11:c.13573G>A	ENSP00000301067.7:p.Val4525Ile
ENST00000552391.1:n.273G>A
NM_003482.3:c.13573G>A	NP_003473.3:p.Val4525Ile
XM_005269162.3:c.13573G>A	XP_005269219.1:p.Val4525Ile
XM_006719614.2:c.13582G>A	XP_006719677.1:p.Val4528Ile
XM_006719616.2:c.13570G>A	XP_006719679.1:p.Val4524Ile
XM_011538770.1:c.13582G>A	XP_011537072.1:p.Val4528Ile
XM_011538771.1:c.13579G>A	XP_011537073.1:p.Val4527Ile
XM_011538772.1:c.13573G>A	XP_011537074.1:p.Val4525Ile
XM_011538773.1:c.13570G>A	XP_011537075.1:p.Val4524Ile
XM_011538774.1:c.13561G>A	XP_011537076.1:p.Val4521Ile
XM_011538775.1:c.13582G>A	XP_011537077.1:p.Val4528Ile
XM_011538776.1:c.13489G>A	XP_011537078.1:p.Val4497Ile
XR_944740.1:n.15902G>A
XM_005269162.4:c.13573G>A	XP_005269219.1:p.Val4525Ile
XM_006719614.4:c.13582G>A	XP_006719677.1:p.Val4528Ile
XM_006719616.3:c.13570G>A	XP_006719679.1:p.Val4524Ile
XM_011538770.2:c.13582G>A	XP_011537072.1:p.Val4528Ile
XM_011538771.2:c.13579G>A	XP_011537073.1:p.Val4527Ile
XM_011538772.2:c.13573G>A	XP_011537074.1:p.Val4525Ile
XM_011538773.2:c.13570G>A	XP_011537075.1:p.Val4524Ile
XM_011538774.2:c.13561G>A	XP_011537076.1:p.Val4521Ile
XM_011538776.2:c.13489G>A	XP_011537078.1:p.Val4497Ile
XR_001748874.1:n.14891G>A
NM_003482.4:c.13573G>A MANE Select	NP_003473.3:p.Val4525Ile