Canonical Allele Identifier: CA370093254

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151845932C>A (hg19) ; chr7:g.152148847C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148847C>A , CM000669.2:g.152148847C>A	GRCh38
NC_000007.13:g.151845932C>A , CM000669.1:g.151845932C>A	GRCh37
NC_000007.12:g.151476865C>A	NCBI36
NG_033948.1:g.292159G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1268G>T
ENST00000682116.1:n.2212G>T
ENST00000682283.1:c.13251G>T	ENSP00000507485.1:p.Trp4417Cys
ENST00000682629.1:n.2380G>T
ENST00000683120.1:n.8272G>T
ENST00000683178.1:c.3653G>T
ENST00000683200.1:c.10590G>T	ENSP00000508052.1:p.Trp3530Cys
ENST00000683337.1:n.4710G>T
ENST00000683502.1:c.3725G>T
ENST00000683621.1:n.1846G>T
ENST00000683640.1:n.1796G>T
ENST00000684069.1:c.1497G>T	ENSP00000507650.1:p.Trp499Cys
ENST00000684261.1:c.7977G>T	ENSP00000508097.1:p.Trp2659Cys
ENST00000684649.1:c.3725G>T
ENST00000262189.11:c.13080G>T MANE Select	ENSP00000262189.6:p.Trp4360Cys
ENST00000360104.8:c.8867G>T
ENST00000418061.2:c.3722G>T
ENST00000424877.6:c.3656G>T
ENST00000679393.1:n.7791G>T
ENST00000679560.1:c.7980G>T	ENSP00000505094.1:p.Trp2660Cys
ENST00000679882.1:c.12645G>T	ENSP00000506154.1:p.Trp4215Cys
ENST00000680029.1:c.3657G>T
ENST00000680877.1:c.7980G>T	ENSP00000505724.1:p.Trp2660Cys
ENST00000681923.1:n.2095G>T
ENST00000262189.10:c.13080G>T	ENSP00000262189.6:p.Trp4360Cys
ENST00000355193.6:c.13080G>T	ENSP00000347325.3:p.Trp4360Cys
ENST00000360104.7:c.5761G>T
ENST00000424877.5:c.2931G>T	ENSP00000410411.1:p.Trp977Cys
ENST00000473186.5:n.10962G>T
ENST00000558084.5:c.*10600G>T	ENSP00000453752.1:n.*10600G>T
NM_170606.2:c.13080G>T	NP_733751.2:p.Trp4360Cys
XM_005250025.3:c.13296G>T	XP_005250082.1:p.Trp4432Cys
XM_005250026.2:c.13293G>T	XP_005250083.1:p.Trp4431Cys
XM_005250027.3:c.13293G>T	XP_005250084.1:p.Trp4431Cys
XM_005250028.3:c.13296G>T	XP_005250085.1:p.Trp4432Cys
XM_005250031.3:c.13131G>T	XP_005250088.1:p.Trp4377Cys
XM_006716077.2:c.13293G>T	XP_006716140.1:p.Trp4431Cys
XM_006716078.2:c.13224G>T	XP_006716141.1:p.Trp4408Cys
XM_006716079.2:c.13128G>T	XP_006716142.1:p.Trp4376Cys
XM_011516450.1:c.13248G>T	XP_011514752.1:p.Trp4416Cys
XM_011516451.1:c.13176G>T	XP_011514753.1:p.Trp4392Cys
XM_011516452.1:c.13143G>T	XP_011514754.1:p.Trp4381Cys
XM_011516453.1:c.13059G>T	XP_011514755.1:p.Trp4353Cys
XM_011516454.1:c.12381G>T	XP_011514756.1:p.Trp4127Cys
XM_011516455.1:c.10842G>T	XP_011514757.1:p.Trp3614Cys
XM_011516456.1:c.13248G>T	XP_011514758.1:p.Trp4416Cys
XM_005250025.4:c.13296G>T	XP_005250082.1:p.Trp4432Cys
XM_005250026.3:c.13293G>T	XP_005250083.1:p.Trp4431Cys
XM_005250027.4:c.13293G>T	XP_005250084.1:p.Trp4431Cys
XM_005250028.4:c.13296G>T	XP_005250085.1:p.Trp4432Cys
XM_005250031.4:c.13131G>T	XP_005250088.1:p.Trp4377Cys
XM_006716077.3:c.13293G>T	XP_006716140.1:p.Trp4431Cys
XM_006716078.3:c.13224G>T	XP_006716141.1:p.Trp4408Cys
XM_006716079.3:c.13128G>T	XP_006716142.1:p.Trp4376Cys
XM_011516450.2:c.13248G>T	XP_011514752.1:p.Trp4416Cys
XM_011516451.2:c.13176G>T	XP_011514753.1:p.Trp4392Cys
XM_011516452.2:c.13143G>T	XP_011514754.1:p.Trp4381Cys
XM_011516453.2:c.13059G>T	XP_011514755.1:p.Trp4353Cys
XM_011516454.2:c.12381G>T	XP_011514756.1:p.Trp4127Cys
XM_011516456.2:c.13248G>T	XP_011514758.1:p.Trp4416Cys
XM_017012480.1:c.13296G>T	XP_016867969.1:p.Trp4432Cys
XM_017012481.1:c.13293G>T	XP_016867970.1:p.Trp4431Cys
XM_017012482.1:c.13293G>T	XP_016867971.1:p.Trp4431Cys
XM_017012483.1:c.13293G>T	XP_016867972.1:p.Trp4431Cys
XM_017012484.1:c.13263G>T	XP_016867973.1:p.Trp4421Cys
XM_017012485.1:c.13245G>T	XP_016867974.1:p.Trp4415Cys
XM_017012486.1:c.13221G>T	XP_016867975.1:p.Trp4407Cys
XM_017012487.1:c.13149G>T	XP_016867976.1:p.Trp4383Cys
XM_017012488.1:c.13113G>T	XP_016867977.1:p.Trp4371Cys
XM_017012489.1:c.9966G>T	XP_016867978.1:p.Trp3322Cys
XM_017012490.2:c.9570G>T	XP_016867979.1:p.Trp3190Cys
XM_024446852.1:c.13293G>T	XP_024302620.1:p.Trp4431Cys
XM_024446853.1:c.13221G>T	XP_024302621.1:p.Trp4407Cys
NM_170606.3:c.13080G>T MANE Select	NP_733751.2:p.Trp4360Cys