Canonical Allele Identifier: CA370093256

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151845933C>G (hg19) ; chr7:g.152148848C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148848C>G , CM000669.2:g.152148848C>G	GRCh38
NC_000007.13:g.151845933C>G , CM000669.1:g.151845933C>G	GRCh37
NC_000007.12:g.151476866C>G	NCBI36
NG_033948.1:g.292158G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1267G>C
ENST00000682116.1:n.2211G>C
ENST00000682283.1:c.13250G>C	ENSP00000507485.1:p.Trp4417Ser
ENST00000682629.1:n.2379G>C
ENST00000683120.1:n.8271G>C
ENST00000683178.1:c.3652G>C
ENST00000683200.1:c.10589G>C	ENSP00000508052.1:p.Trp3530Ser
ENST00000683337.1:n.4709G>C
ENST00000683502.1:c.3724G>C
ENST00000683621.1:n.1845G>C
ENST00000683640.1:n.1795G>C
ENST00000684069.1:c.1496G>C	ENSP00000507650.1:p.Trp499Ser
ENST00000684261.1:c.7976G>C	ENSP00000508097.1:p.Trp2659Ser
ENST00000684649.1:c.3724G>C
ENST00000262189.11:c.13079G>C MANE Select	ENSP00000262189.6:p.Trp4360Ser
ENST00000360104.8:c.8866G>C
ENST00000418061.2:c.3721G>C
ENST00000424877.6:c.3655G>C
ENST00000679393.1:n.7790G>C
ENST00000679560.1:c.7979G>C	ENSP00000505094.1:p.Trp2660Ser
ENST00000679882.1:c.12644G>C	ENSP00000506154.1:p.Trp4215Ser
ENST00000680029.1:c.3656G>C
ENST00000680877.1:c.7979G>C	ENSP00000505724.1:p.Trp2660Ser
ENST00000681923.1:n.2094G>C
ENST00000262189.10:c.13079G>C	ENSP00000262189.6:p.Trp4360Ser
ENST00000355193.6:c.13079G>C	ENSP00000347325.3:p.Trp4360Ser
ENST00000360104.7:c.5760G>C
ENST00000424877.5:c.2930G>C	ENSP00000410411.1:p.Trp977Ser
ENST00000473186.5:n.10961G>C
ENST00000558084.5:c.*10599G>C	ENSP00000453752.1:n.*10599G>C
NM_170606.2:c.13079G>C	NP_733751.2:p.Trp4360Ser
XM_005250025.3:c.13295G>C	XP_005250082.1:p.Trp4432Ser
XM_005250026.2:c.13292G>C	XP_005250083.1:p.Trp4431Ser
XM_005250027.3:c.13292G>C	XP_005250084.1:p.Trp4431Ser
XM_005250028.3:c.13295G>C	XP_005250085.1:p.Trp4432Ser
XM_005250031.3:c.13130G>C	XP_005250088.1:p.Trp4377Ser
XM_006716077.2:c.13292G>C	XP_006716140.1:p.Trp4431Ser
XM_006716078.2:c.13223G>C	XP_006716141.1:p.Trp4408Ser
XM_006716079.2:c.13127G>C	XP_006716142.1:p.Trp4376Ser
XM_011516450.1:c.13247G>C	XP_011514752.1:p.Trp4416Ser
XM_011516451.1:c.13175G>C	XP_011514753.1:p.Trp4392Ser
XM_011516452.1:c.13142G>C	XP_011514754.1:p.Trp4381Ser
XM_011516453.1:c.13058G>C	XP_011514755.1:p.Trp4353Ser
XM_011516454.1:c.12380G>C	XP_011514756.1:p.Trp4127Ser
XM_011516455.1:c.10841G>C	XP_011514757.1:p.Trp3614Ser
XM_011516456.1:c.13247G>C	XP_011514758.1:p.Trp4416Ser
XM_005250025.4:c.13295G>C	XP_005250082.1:p.Trp4432Ser
XM_005250026.3:c.13292G>C	XP_005250083.1:p.Trp4431Ser
XM_005250027.4:c.13292G>C	XP_005250084.1:p.Trp4431Ser
XM_005250028.4:c.13295G>C	XP_005250085.1:p.Trp4432Ser
XM_005250031.4:c.13130G>C	XP_005250088.1:p.Trp4377Ser
XM_006716077.3:c.13292G>C	XP_006716140.1:p.Trp4431Ser
XM_006716078.3:c.13223G>C	XP_006716141.1:p.Trp4408Ser
XM_006716079.3:c.13127G>C	XP_006716142.1:p.Trp4376Ser
XM_011516450.2:c.13247G>C	XP_011514752.1:p.Trp4416Ser
XM_011516451.2:c.13175G>C	XP_011514753.1:p.Trp4392Ser
XM_011516452.2:c.13142G>C	XP_011514754.1:p.Trp4381Ser
XM_011516453.2:c.13058G>C	XP_011514755.1:p.Trp4353Ser
XM_011516454.2:c.12380G>C	XP_011514756.1:p.Trp4127Ser
XM_011516456.2:c.13247G>C	XP_011514758.1:p.Trp4416Ser
XM_017012480.1:c.13295G>C	XP_016867969.1:p.Trp4432Ser
XM_017012481.1:c.13292G>C	XP_016867970.1:p.Trp4431Ser
XM_017012482.1:c.13292G>C	XP_016867971.1:p.Trp4431Ser
XM_017012483.1:c.13292G>C	XP_016867972.1:p.Trp4431Ser
XM_017012484.1:c.13262G>C	XP_016867973.1:p.Trp4421Ser
XM_017012485.1:c.13244G>C	XP_016867974.1:p.Trp4415Ser
XM_017012486.1:c.13220G>C	XP_016867975.1:p.Trp4407Ser
XM_017012487.1:c.13148G>C	XP_016867976.1:p.Trp4383Ser
XM_017012488.1:c.13112G>C	XP_016867977.1:p.Trp4371Ser
XM_017012489.1:c.9965G>C	XP_016867978.1:p.Trp3322Ser
XM_017012490.2:c.9569G>C	XP_016867979.1:p.Trp3190Ser
XM_024446852.1:c.13292G>C	XP_024302620.1:p.Trp4431Ser
XM_024446853.1:c.13220G>C	XP_024302621.1:p.Trp4407Ser
NM_170606.3:c.13079G>C MANE Select	NP_733751.2:p.Trp4360Ser