Canonical Allele Identifier: CA370100567

Gene: KMT2C

Linked Data

• gnomAD v4: 7-152183156-G-T
• MyVariant Identifiers: chr7:g.151880241G>T (hg19) ; chr7:g.152183156G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152183156G>T , CM000669.2:g.152183156G>T	GRCh38
NC_000007.13:g.151880241G>T , CM000669.1:g.151880241G>T	GRCh37
NC_000007.12:g.151511174G>T	NCBI36
NG_033948.1:g.257850C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682176.1:c.1802C>A
ENST00000682283.1:c.5083C>A	ENSP00000507485.1:p.Gln1695Lys
ENST00000683159.1:c.576-562C>A
ENST00000683200.1:c.2431C>A	ENSP00000508052.1:p.Gln811Lys
ENST00000262189.11:c.5083C>A MANE Select	ENSP00000262189.6:p.Gln1695Lys
ENST00000360104.8:c.705C>A
ENST00000679645.1:c.*1176C>A	ENSP00000505745.1:n.*1176C>A
ENST00000679882.1:c.4858C>A	ENSP00000506154.1:p.Gln1620Lys
ENST00000680969.1:c.2479C>A	ENSP00000505951.1:p.Gln827Lys
ENST00000681033.1:c.3781C>A	ENSP00000505058.1:p.Gln1261Lys
ENST00000681755.1:n.8C>A
ENST00000262189.10:c.5083C>A	ENSP00000262189.6:p.Gln1695Lys
ENST00000355193.6:c.5083C>A	ENSP00000347325.3:p.Gln1695Lys
ENST00000473186.5:n.2794C>A
ENST00000558084.5:c.*2603C>A	ENSP00000453752.1:n.*2603C>A
NM_170606.2:c.5083C>A	NP_733751.2:p.Gln1695Lys
XM_005250025.3:c.5134C>A	XP_005250082.1:p.Gln1712Lys
XM_005250026.2:c.5131C>A	XP_005250083.1:p.Gln1711Lys
XM_005250027.3:c.5134C>A	XP_005250084.1:p.Gln1712Lys
XM_005250028.3:c.5134C>A	XP_005250085.1:p.Gln1712Lys
XM_005250031.3:c.5134C>A	XP_005250088.1:p.Gln1712Lys
XM_006716077.2:c.5134C>A	XP_006716140.1:p.Gln1712Lys
XM_006716078.2:c.5134C>A	XP_006716141.1:p.Gln1712Lys
XM_006716079.2:c.5134C>A	XP_006716142.1:p.Gln1712Lys
XM_011516450.1:c.5086C>A	XP_011514752.1:p.Gln1696Lys
XM_011516451.1:c.5014C>A	XP_011514753.1:p.Gln1672Lys
XM_011516452.1:c.4981C>A	XP_011514754.1:p.Gln1661Lys
XM_011516453.1:c.5134C>A	XP_011514755.1:p.Gln1712Lys
XM_011516454.1:c.4219C>A	XP_011514756.1:p.Gln1407Lys
XM_011516455.1:c.2680C>A	XP_011514757.1:p.Gln894Lys
XM_011516456.1:c.5086C>A	XP_011514758.1:p.Gln1696Lys
XR_428183.2:n.5342C>A
XM_005250025.4:c.5134C>A	XP_005250082.1:p.Gln1712Lys
XM_005250026.3:c.5131C>A	XP_005250083.1:p.Gln1711Lys
XM_005250027.4:c.5134C>A	XP_005250084.1:p.Gln1712Lys
XM_005250028.4:c.5134C>A	XP_005250085.1:p.Gln1712Lys
XM_005250031.4:c.5134C>A	XP_005250088.1:p.Gln1712Lys
XM_006716077.3:c.5134C>A	XP_006716140.1:p.Gln1712Lys
XM_006716078.3:c.5134C>A	XP_006716141.1:p.Gln1712Lys
XM_006716079.3:c.5134C>A	XP_006716142.1:p.Gln1712Lys
XM_011516450.2:c.5086C>A	XP_011514752.1:p.Gln1696Lys
XM_011516451.2:c.5014C>A	XP_011514753.1:p.Gln1672Lys
XM_011516452.2:c.4981C>A	XP_011514754.1:p.Gln1661Lys
XM_011516453.2:c.5134C>A	XP_011514755.1:p.Gln1712Lys
XM_011516454.2:c.4219C>A	XP_011514756.1:p.Gln1407Lys
XM_011516456.2:c.5086C>A	XP_011514758.1:p.Gln1696Lys
XM_017012480.1:c.5134C>A	XP_016867969.1:p.Gln1712Lys
XM_017012481.1:c.5131C>A	XP_016867970.1:p.Gln1711Lys
XM_017012482.1:c.5134C>A	XP_016867971.1:p.Gln1712Lys
XM_017012483.1:c.5134C>A	XP_016867972.1:p.Gln1712Lys
XM_017012484.1:c.5101C>A	XP_016867973.1:p.Gln1701Lys
XM_017012485.1:c.5083C>A	XP_016867974.1:p.Gln1695Lys
XM_017012486.1:c.5134C>A	XP_016867975.1:p.Gln1712Lys
XM_017012487.1:c.4987C>A	XP_016867976.1:p.Gln1663Lys
XM_017012488.1:c.5134-562C>A	XP_016867977.1:n.5134-562C>A
XM_017012489.1:c.1804C>A	XP_016867978.1:p.Gln602Lys
XM_017012490.2:c.1408C>A	XP_016867979.1:p.Gln470Lys
XM_024446852.1:c.5131C>A	XP_024302620.1:p.Gln1711Lys
XM_024446853.1:c.5134C>A	XP_024302621.1:p.Gln1712Lys
XR_428183.3:n.5366C>A
NM_170606.3:c.5083C>A MANE Select	NP_733751.2:p.Gln1695Lys