Canonical Allele Identifier: CA370093332

Gene: KMT2C

Linked Data

• COSMIC: COSM3879514 ; COSM3879515
• MyVariant Identifiers: chr7:g.151845953T>G (hg19) ; chr7:g.152148868T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148868T>G , CM000669.2:g.152148868T>G	GRCh38
NC_000007.13:g.151845953T>G , CM000669.1:g.151845953T>G	GRCh37
NC_000007.12:g.151476886T>G	NCBI36
NG_033948.1:g.292138A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1247A>C
ENST00000682116.1:n.2191A>C
ENST00000682283.1:c.13230A>C	ENSP00000507485.1:p.Arg4410Ser
ENST00000682629.1:n.2359A>C
ENST00000683120.1:n.8251A>C
ENST00000683178.1:c.3632A>C
ENST00000683200.1:c.10569A>C	ENSP00000508052.1:p.Arg3523Ser
ENST00000683337.1:n.4689A>C
ENST00000683502.1:c.3704A>C
ENST00000683621.1:n.1825A>C
ENST00000683640.1:n.1775A>C
ENST00000684069.1:c.1476A>C	ENSP00000507650.1:p.Arg492Ser
ENST00000684261.1:c.7956A>C	ENSP00000508097.1:p.Arg2652Ser
ENST00000684649.1:c.3704A>C
ENST00000262189.11:c.13059A>C MANE Select	ENSP00000262189.6:p.Arg4353Ser
ENST00000360104.8:c.8846A>C
ENST00000418061.2:c.3701A>C
ENST00000424877.6:c.3635A>C
ENST00000679393.1:n.7770A>C
ENST00000679560.1:c.7959A>C	ENSP00000505094.1:p.Arg2653Ser
ENST00000679882.1:c.12624A>C	ENSP00000506154.1:p.Arg4208Ser
ENST00000680029.1:c.3636A>C
ENST00000680877.1:c.7959A>C	ENSP00000505724.1:p.Arg2653Ser
ENST00000681923.1:n.2074A>C
ENST00000262189.10:c.13059A>C	ENSP00000262189.6:p.Arg4353Ser
ENST00000355193.6:c.13059A>C	ENSP00000347325.3:p.Arg4353Ser
ENST00000360104.7:c.5740A>C
ENST00000424877.5:c.2910A>C	ENSP00000410411.1:p.Arg970Ser
ENST00000473186.5:n.10941A>C
ENST00000558084.5:c.*10579A>C	ENSP00000453752.1:n.*10579A>C
NM_170606.2:c.13059A>C	NP_733751.2:p.Arg4353Ser
XM_005250025.3:c.13275A>C	XP_005250082.1:p.Arg4425Ser
XM_005250026.2:c.13272A>C	XP_005250083.1:p.Arg4424Ser
XM_005250027.3:c.13272A>C	XP_005250084.1:p.Arg4424Ser
XM_005250028.3:c.13275A>C	XP_005250085.1:p.Arg4425Ser
XM_005250031.3:c.13110A>C	XP_005250088.1:p.Arg4370Ser
XM_006716077.2:c.13272A>C	XP_006716140.1:p.Arg4424Ser
XM_006716078.2:c.13203A>C	XP_006716141.1:p.Arg4401Ser
XM_006716079.2:c.13107A>C	XP_006716142.1:p.Arg4369Ser
XM_011516450.1:c.13227A>C	XP_011514752.1:p.Arg4409Ser
XM_011516451.1:c.13155A>C	XP_011514753.1:p.Arg4385Ser
XM_011516452.1:c.13122A>C	XP_011514754.1:p.Arg4374Ser
XM_011516453.1:c.13038A>C	XP_011514755.1:p.Arg4346Ser
XM_011516454.1:c.12360A>C	XP_011514756.1:p.Arg4120Ser
XM_011516455.1:c.10821A>C	XP_011514757.1:p.Arg3607Ser
XM_011516456.1:c.13227A>C	XP_011514758.1:p.Arg4409Ser
XM_005250025.4:c.13275A>C	XP_005250082.1:p.Arg4425Ser
XM_005250026.3:c.13272A>C	XP_005250083.1:p.Arg4424Ser
XM_005250027.4:c.13272A>C	XP_005250084.1:p.Arg4424Ser
XM_005250028.4:c.13275A>C	XP_005250085.1:p.Arg4425Ser
XM_005250031.4:c.13110A>C	XP_005250088.1:p.Arg4370Ser
XM_006716077.3:c.13272A>C	XP_006716140.1:p.Arg4424Ser
XM_006716078.3:c.13203A>C	XP_006716141.1:p.Arg4401Ser
XM_006716079.3:c.13107A>C	XP_006716142.1:p.Arg4369Ser
XM_011516450.2:c.13227A>C	XP_011514752.1:p.Arg4409Ser
XM_011516451.2:c.13155A>C	XP_011514753.1:p.Arg4385Ser
XM_011516452.2:c.13122A>C	XP_011514754.1:p.Arg4374Ser
XM_011516453.2:c.13038A>C	XP_011514755.1:p.Arg4346Ser
XM_011516454.2:c.12360A>C	XP_011514756.1:p.Arg4120Ser
XM_011516456.2:c.13227A>C	XP_011514758.1:p.Arg4409Ser
XM_017012480.1:c.13275A>C	XP_016867969.1:p.Arg4425Ser
XM_017012481.1:c.13272A>C	XP_016867970.1:p.Arg4424Ser
XM_017012482.1:c.13272A>C	XP_016867971.1:p.Arg4424Ser
XM_017012483.1:c.13272A>C	XP_016867972.1:p.Arg4424Ser
XM_017012484.1:c.13242A>C	XP_016867973.1:p.Arg4414Ser
XM_017012485.1:c.13224A>C	XP_016867974.1:p.Arg4408Ser
XM_017012486.1:c.13200A>C	XP_016867975.1:p.Arg4400Ser
XM_017012487.1:c.13128A>C	XP_016867976.1:p.Arg4376Ser
XM_017012488.1:c.13092A>C	XP_016867977.1:p.Arg4364Ser
XM_017012489.1:c.9945A>C	XP_016867978.1:p.Arg3315Ser
XM_017012490.2:c.9549A>C	XP_016867979.1:p.Arg3183Ser
XM_024446852.1:c.13272A>C	XP_024302620.1:p.Arg4424Ser
XM_024446853.1:c.13200A>C	XP_024302621.1:p.Arg4400Ser
NM_170606.3:c.13059A>C MANE Select	NP_733751.2:p.Arg4353Ser