Canonical Allele Identifier: CA4580316

Gene: KMT2C

Linked Data

• dbSNP Id: rs767844017
• ExAC: 7:151880228 T / C
• gnomAD v2: 7-151880228-T-C
• gnomAD v4: 7-152183143-T-C
• MyVariant Identifiers: chr7:g.151880228T>C (hg19) ; chr7:g.152183143T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152183143T>C , CM000669.2:g.152183143T>C	GRCh38
NC_000007.13:g.151880228T>C , CM000669.1:g.151880228T>C	GRCh37
NC_000007.12:g.151511161T>C	NCBI36
NG_033948.1:g.257863A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682176.1:c.1815A>G
ENST00000682283.1:c.5096A>G	ENSP00000507485.1:p.Asp1699Gly
ENST00000683159.1:c.576-549A>G
ENST00000683200.1:c.2444A>G	ENSP00000508052.1:p.Asp815Gly
ENST00000262189.11:c.5096A>G MANE Select	ENSP00000262189.6:p.Asp1699Gly
ENST00000360104.8:c.718A>G
ENST00000679645.1:c.*1189A>G	ENSP00000505745.1:n.*1189A>G
ENST00000679882.1:c.4871A>G	ENSP00000506154.1:p.Asp1624Gly
ENST00000680969.1:c.2492A>G	ENSP00000505951.1:p.Asp831Gly
ENST00000681033.1:c.3794A>G	ENSP00000505058.1:p.Asp1265Gly
ENST00000681755.1:n.21A>G
ENST00000262189.10:c.5096A>G	ENSP00000262189.6:p.Asp1699Gly
ENST00000355193.6:c.5096A>G	ENSP00000347325.3:p.Asp1699Gly
ENST00000473186.5:n.2807A>G
ENST00000558084.5:c.*2616A>G	ENSP00000453752.1:n.*2616A>G
NM_170606.2:c.5096A>G	NP_733751.2:p.Asp1699Gly
XM_005250025.3:c.5147A>G	XP_005250082.1:p.Asp1716Gly
XM_005250026.2:c.5144A>G	XP_005250083.1:p.Asp1715Gly
XM_005250027.3:c.5147A>G	XP_005250084.1:p.Asp1716Gly
XM_005250028.3:c.5147A>G	XP_005250085.1:p.Asp1716Gly
XM_005250031.3:c.5147A>G	XP_005250088.1:p.Asp1716Gly
XM_006716077.2:c.5147A>G	XP_006716140.1:p.Asp1716Gly
XM_006716078.2:c.5147A>G	XP_006716141.1:p.Asp1716Gly
XM_006716079.2:c.5147A>G	XP_006716142.1:p.Asp1716Gly
XM_011516450.1:c.5099A>G	XP_011514752.1:p.Asp1700Gly
XM_011516451.1:c.5027A>G	XP_011514753.1:p.Asp1676Gly
XM_011516452.1:c.4994A>G	XP_011514754.1:p.Asp1665Gly
XM_011516453.1:c.5147A>G	XP_011514755.1:p.Asp1716Gly
XM_011516454.1:c.4232A>G	XP_011514756.1:p.Asp1411Gly
XM_011516455.1:c.2693A>G	XP_011514757.1:p.Asp898Gly
XM_011516456.1:c.5099A>G	XP_011514758.1:p.Asp1700Gly
XR_428183.2:n.5355A>G
XM_005250025.4:c.5147A>G	XP_005250082.1:p.Asp1716Gly
XM_005250026.3:c.5144A>G	XP_005250083.1:p.Asp1715Gly
XM_005250027.4:c.5147A>G	XP_005250084.1:p.Asp1716Gly
XM_005250028.4:c.5147A>G	XP_005250085.1:p.Asp1716Gly
XM_005250031.4:c.5147A>G	XP_005250088.1:p.Asp1716Gly
XM_006716077.3:c.5147A>G	XP_006716140.1:p.Asp1716Gly
XM_006716078.3:c.5147A>G	XP_006716141.1:p.Asp1716Gly
XM_006716079.3:c.5147A>G	XP_006716142.1:p.Asp1716Gly
XM_011516450.2:c.5099A>G	XP_011514752.1:p.Asp1700Gly
XM_011516451.2:c.5027A>G	XP_011514753.1:p.Asp1676Gly
XM_011516452.2:c.4994A>G	XP_011514754.1:p.Asp1665Gly
XM_011516453.2:c.5147A>G	XP_011514755.1:p.Asp1716Gly
XM_011516454.2:c.4232A>G	XP_011514756.1:p.Asp1411Gly
XM_011516456.2:c.5099A>G	XP_011514758.1:p.Asp1700Gly
XM_017012480.1:c.5147A>G	XP_016867969.1:p.Asp1716Gly
XM_017012481.1:c.5144A>G	XP_016867970.1:p.Asp1715Gly
XM_017012482.1:c.5147A>G	XP_016867971.1:p.Asp1716Gly
XM_017012483.1:c.5147A>G	XP_016867972.1:p.Asp1716Gly
XM_017012484.1:c.5114A>G	XP_016867973.1:p.Asp1705Gly
XM_017012485.1:c.5096A>G	XP_016867974.1:p.Asp1699Gly
XM_017012486.1:c.5147A>G	XP_016867975.1:p.Asp1716Gly
XM_017012487.1:c.5000A>G	XP_016867976.1:p.Asp1667Gly
XM_017012488.1:c.5134-549A>G	XP_016867977.1:n.5134-549A>G
XM_017012489.1:c.1817A>G	XP_016867978.1:p.Asp606Gly
XM_017012490.2:c.1421A>G	XP_016867979.1:p.Asp474Gly
XM_024446852.1:c.5144A>G	XP_024302620.1:p.Asp1715Gly
XM_024446853.1:c.5147A>G	XP_024302621.1:p.Asp1716Gly
XR_428183.3:n.5379A>G
NM_170606.3:c.5096A>G MANE Select	NP_733751.2:p.Asp1699Gly