Canonical Allele Identifier: CA4579374
Community Standard Title: NM_170606.3(KMT2C):c.9973A>T (p.Ser3325Cys)
Gene: KMT2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152163604T>A , CM000669.2:g.152163604T>A GRCh38
NC_000007.13:g.151860689T>A , CM000669.1:g.151860689T>A GRCh37
NC_000007.12:g.151491622T>A NCBI36
NG_033948.1:g.277402A>T

Transcript Alleles

HGVS Amino-acid Change
NM_170606.3:c.9973A>T MANE Select NP_733751.2:p.Ser3325Cys
ENST00000262189.11:c.9973A>T MANE Select ENSP00000262189.6:p.Ser3325Cys
NM_170606.2:c.9973A>T NP_733751.2:p.Ser3325Cys
ENST00000262189.10:c.9973A>T ENSP00000262189.6:p.Ser3325Cys
ENST00000355193.6:c.9973A>T ENSP00000347325.3:p.Ser3325Cys
ENST00000360104.7:c.2489A>T
ENST00000360104.8:c.5595A>T
ENST00000418061.2:c.456A>T
ENST00000424877.6:c.456A>T
ENST00000473186.5:n.7684A>T
ENST00000558084.5:c.*7493A>T ENSP00000453752.1:n.*7493A>T
ENST00000679393.1:n.3464A>T
ENST00000679560.1:c.4708A>T ENSP00000505094.1:p.Ser1570Cys
ENST00000679882.1:c.9748A>T ENSP00000506154.1:p.Ser3250Cys
ENST00000680029.1:c.456A>T
ENST00000680877.1:c.4708A>T ENSP00000505724.1:p.Ser1570Cys
ENST00000680969.1:c.7369A>T ENSP00000505951.1:p.Ser2457Cys
ENST00000682283.1:c.9973A>T ENSP00000507485.1:p.Ser3325Cys
ENST00000683120.1:n.1959A>T
ENST00000683178.1:c.456A>T
ENST00000683200.1:c.7321A>T ENSP00000508052.1:p.Ser2441Cys
ENST00000683397.1:c.4731A>T ENSP00000507053.1:n.4731A>T
ENST00000683502.1:c.456A>T
ENST00000683625.1:c.4612+96A>T ENSP00000507769.1:n.4612+96A>T
ENST00000683670.1:c.4708A>T ENSP00000507634.1:p.Ser1570Cys
ENST00000684261.1:c.4708A>T ENSP00000508097.1:p.Ser1570Cys
ENST00000684307.1:c.4644A>T ENSP00000507202.1:n.4644A>T
ENST00000684398.1:c.4708A>T ENSP00000507254.1:p.Ser1570Cys
ENST00000684649.1:c.456A>T
XM_005250025.3:c.10024A>T XP_005250082.1:p.Ser3342Cys
XM_005250025.4:c.10024A>T XP_005250082.1:p.Ser3342Cys
XM_005250026.2:c.10021A>T XP_005250083.1:p.Ser3341Cys
XM_005250026.3:c.10021A>T XP_005250083.1:p.Ser3341Cys
XM_005250027.3:c.10024A>T XP_005250084.1:p.Ser3342Cys
XM_005250027.4:c.10024A>T XP_005250084.1:p.Ser3342Cys
XM_005250028.3:c.10024A>T XP_005250085.1:p.Ser3342Cys
XM_005250028.4:c.10024A>T XP_005250085.1:p.Ser3342Cys
XM_005250031.3:c.10024A>T XP_005250088.1:p.Ser3342Cys
XM_005250031.4:c.10024A>T XP_005250088.1:p.Ser3342Cys
XM_006716077.2:c.10024A>T XP_006716140.1:p.Ser3342Cys
XM_006716077.3:c.10024A>T XP_006716140.1:p.Ser3342Cys
XM_006716078.2:c.10024A>T XP_006716141.1:p.Ser3342Cys
XM_006716078.3:c.10024A>T XP_006716141.1:p.Ser3342Cys
XM_006716079.2:c.10024A>T XP_006716142.1:p.Ser3342Cys
XM_006716079.3:c.10024A>T XP_006716142.1:p.Ser3342Cys
XM_011516450.1:c.9976A>T XP_011514752.1:p.Ser3326Cys
XM_011516450.2:c.9976A>T XP_011514752.1:p.Ser3326Cys
XM_011516451.1:c.9904A>T XP_011514753.1:p.Ser3302Cys
XM_011516451.2:c.9904A>T XP_011514753.1:p.Ser3302Cys
XM_011516452.1:c.9871A>T XP_011514754.1:p.Ser3291Cys
XM_011516452.2:c.9871A>T XP_011514754.1:p.Ser3291Cys
XM_011516453.1:c.10024A>T XP_011514755.1:p.Ser3342Cys
XM_011516453.2:c.10024A>T XP_011514755.1:p.Ser3342Cys
XM_011516454.1:c.9109A>T XP_011514756.1:p.Ser3037Cys
XM_011516454.2:c.9109A>T XP_011514756.1:p.Ser3037Cys
XM_011516455.1:c.7570A>T XP_011514757.1:p.Ser2524Cys
XM_011516456.1:c.9976A>T XP_011514758.1:p.Ser3326Cys
XM_011516456.2:c.9976A>T XP_011514758.1:p.Ser3326Cys
XM_017012480.1:c.10024A>T XP_016867969.1:p.Ser3342Cys
XM_017012481.1:c.10021A>T XP_016867970.1:p.Ser3341Cys
XM_017012482.1:c.10024A>T XP_016867971.1:p.Ser3342Cys
XM_017012483.1:c.10024A>T XP_016867972.1:p.Ser3342Cys
XM_017012484.1:c.9991A>T XP_016867973.1:p.Ser3331Cys
XM_017012485.1:c.9973A>T XP_016867974.1:p.Ser3325Cys
XM_017012486.1:c.10024A>T XP_016867975.1:p.Ser3342Cys
XM_017012487.1:c.9877A>T XP_016867976.1:p.Ser3293Cys
XM_017012488.1:c.9841A>T XP_016867977.1:p.Ser3281Cys
XM_017012489.1:c.6694A>T XP_016867978.1:p.Ser2232Cys
XM_017012490.2:c.6298A>T XP_016867979.1:p.Ser2100Cys
XM_024446852.1:c.10021A>T XP_024302620.1:p.Ser3341Cys
XM_024446853.1:c.10024A>T XP_024302621.1:p.Ser3342Cys
XR_428183.2:n.10232A>T
XR_428183.3:n.10256A>T