Canonical Allele Identifier: CA370093102

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151845887A>C (hg19) ; chr7:g.152148802A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148802A>C , CM000669.2:g.152148802A>C	GRCh38
NC_000007.13:g.151845887A>C , CM000669.1:g.151845887A>C	GRCh37
NC_000007.12:g.151476820A>C	NCBI36
NG_033948.1:g.292204T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1313T>G
ENST00000682116.1:n.2257T>G
ENST00000682283.1:c.13296T>G	ENSP00000507485.1:p.Cys4432Trp
ENST00000682629.1:n.2425T>G
ENST00000683120.1:n.8317T>G
ENST00000683178.1:c.3698T>G
ENST00000683200.1:c.10635T>G	ENSP00000508052.1:p.Cys3545Trp
ENST00000683337.1:n.4755T>G
ENST00000683502.1:c.3770T>G
ENST00000683621.1:n.1891T>G
ENST00000683640.1:n.1841T>G
ENST00000684069.1:c.1542T>G	ENSP00000507650.1:p.Cys514Trp
ENST00000684261.1:c.8022T>G	ENSP00000508097.1:p.Cys2674Trp
ENST00000684649.1:c.3770T>G
ENST00000262189.11:c.13125T>G MANE Select	ENSP00000262189.6:p.Cys4375Trp
ENST00000360104.8:c.8912T>G
ENST00000418061.2:c.3767T>G
ENST00000424877.6:c.3701T>G
ENST00000679393.1:n.7836T>G
ENST00000679560.1:c.8025T>G	ENSP00000505094.1:p.Cys2675Trp
ENST00000679882.1:c.12690T>G	ENSP00000506154.1:p.Cys4230Trp
ENST00000680029.1:c.3702T>G
ENST00000680877.1:c.8025T>G	ENSP00000505724.1:p.Cys2675Trp
ENST00000681923.1:n.2140T>G
ENST00000262189.10:c.13125T>G	ENSP00000262189.6:p.Cys4375Trp
ENST00000355193.6:c.13125T>G	ENSP00000347325.3:p.Cys4375Trp
ENST00000360104.7:c.5806T>G
ENST00000424877.5:c.2976T>G	ENSP00000410411.1:p.Cys992Trp
ENST00000473186.5:n.11007T>G
ENST00000558084.5:c.*10645T>G	ENSP00000453752.1:n.*10645T>G
NM_170606.2:c.13125T>G	NP_733751.2:p.Cys4375Trp
XM_005250025.3:c.13341T>G	XP_005250082.1:p.Cys4447Trp
XM_005250026.2:c.13338T>G	XP_005250083.1:p.Cys4446Trp
XM_005250027.3:c.13338T>G	XP_005250084.1:p.Cys4446Trp
XM_005250028.3:c.13341T>G	XP_005250085.1:p.Cys4447Trp
XM_005250031.3:c.13176T>G	XP_005250088.1:p.Cys4392Trp
XM_006716077.2:c.13338T>G	XP_006716140.1:p.Cys4446Trp
XM_006716078.2:c.13269T>G	XP_006716141.1:p.Cys4423Trp
XM_006716079.2:c.13173T>G	XP_006716142.1:p.Cys4391Trp
XM_011516450.1:c.13293T>G	XP_011514752.1:p.Cys4431Trp
XM_011516451.1:c.13221T>G	XP_011514753.1:p.Cys4407Trp
XM_011516452.1:c.13188T>G	XP_011514754.1:p.Cys4396Trp
XM_011516453.1:c.13104T>G	XP_011514755.1:p.Cys4368Trp
XM_011516454.1:c.12426T>G	XP_011514756.1:p.Cys4142Trp
XM_011516455.1:c.10887T>G	XP_011514757.1:p.Cys3629Trp
XM_011516456.1:c.13293T>G	XP_011514758.1:p.Cys4431Trp
XM_005250025.4:c.13341T>G	XP_005250082.1:p.Cys4447Trp
XM_005250026.3:c.13338T>G	XP_005250083.1:p.Cys4446Trp
XM_005250027.4:c.13338T>G	XP_005250084.1:p.Cys4446Trp
XM_005250028.4:c.13341T>G	XP_005250085.1:p.Cys4447Trp
XM_005250031.4:c.13176T>G	XP_005250088.1:p.Cys4392Trp
XM_006716077.3:c.13338T>G	XP_006716140.1:p.Cys4446Trp
XM_006716078.3:c.13269T>G	XP_006716141.1:p.Cys4423Trp
XM_006716079.3:c.13173T>G	XP_006716142.1:p.Cys4391Trp
XM_011516450.2:c.13293T>G	XP_011514752.1:p.Cys4431Trp
XM_011516451.2:c.13221T>G	XP_011514753.1:p.Cys4407Trp
XM_011516452.2:c.13188T>G	XP_011514754.1:p.Cys4396Trp
XM_011516453.2:c.13104T>G	XP_011514755.1:p.Cys4368Trp
XM_011516454.2:c.12426T>G	XP_011514756.1:p.Cys4142Trp
XM_011516456.2:c.13293T>G	XP_011514758.1:p.Cys4431Trp
XM_017012480.1:c.13341T>G	XP_016867969.1:p.Cys4447Trp
XM_017012481.1:c.13338T>G	XP_016867970.1:p.Cys4446Trp
XM_017012482.1:c.13338T>G	XP_016867971.1:p.Cys4446Trp
XM_017012483.1:c.13338T>G	XP_016867972.1:p.Cys4446Trp
XM_017012484.1:c.13308T>G	XP_016867973.1:p.Cys4436Trp
XM_017012485.1:c.13290T>G	XP_016867974.1:p.Cys4430Trp
XM_017012486.1:c.13266T>G	XP_016867975.1:p.Cys4422Trp
XM_017012487.1:c.13194T>G	XP_016867976.1:p.Cys4398Trp
XM_017012488.1:c.13158T>G	XP_016867977.1:p.Cys4386Trp
XM_017012489.1:c.10011T>G	XP_016867978.1:p.Cys3337Trp
XM_017012490.2:c.9615T>G	XP_016867979.1:p.Cys3205Trp
XM_024446852.1:c.13338T>G	XP_024302620.1:p.Cys4446Trp
XM_024446853.1:c.13266T>G	XP_024302621.1:p.Cys4422Trp
NM_170606.3:c.13125T>G MANE Select	NP_733751.2:p.Cys4375Trp