Canonical Allele Identifier: CA370098921
Community Standard Title: NM_170606.3(KMT2C):c.5419C>T (p.Gln1807Ter)
Gene: KMT2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152182441G>A , CM000669.2:g.152182441G>A GRCh38
NC_000007.13:g.151879526G>A , CM000669.1:g.151879526G>A GRCh37
NC_000007.12:g.151510459G>A NCBI36
NG_033948.1:g.258565C>T

Transcript Alleles

HGVS Amino-acid Change
NM_170606.3:c.5419C>T MANE Select NP_733751.2:p.Gln1807Ter
ENST00000262189.11:c.5419C>T MANE Select ENSP00000262189.6:p.Gln1807Ter
NM_170606.2:c.5419C>T NP_733751.2:p.Gln1807Ter
ENST00000262189.10:c.5419C>T ENSP00000262189.6:p.Gln1807Ter
ENST00000355193.6:c.5419C>T ENSP00000347325.3:p.Gln1807Ter
ENST00000360104.8:c.1041C>T
ENST00000473186.5:n.3130C>T
ENST00000558084.5:c.*2939C>T ENSP00000453752.1:n.*2939C>T
ENST00000558665.2:c.154C>T ENSP00000454058.2:p.Gln52Ter
ENST00000679560.1:c.154C>T ENSP00000505094.1:p.Gln52Ter
ENST00000679645.1:c.*1512C>T ENSP00000505745.1:n.*1512C>T
ENST00000679882.1:c.5194C>T ENSP00000506154.1:p.Gln1732Ter
ENST00000680877.1:c.154C>T ENSP00000505724.1:p.Gln52Ter
ENST00000680969.1:c.2815C>T ENSP00000505951.1:p.Gln939Ter
ENST00000681033.1:c.4117C>T ENSP00000505058.1:p.Gln1373Ter
ENST00000682176.1:c.2138C>T
ENST00000682283.1:c.5419C>T ENSP00000507485.1:p.Gln1807Ter
ENST00000683159.1:c.729C>T
ENST00000683200.1:c.2767C>T ENSP00000508052.1:p.Gln923Ter
ENST00000683397.1:c.154C>T ENSP00000507053.1:p.Gln52Ter
ENST00000683625.1:c.154C>T ENSP00000507769.1:p.Gln52Ter
ENST00000683670.1:c.154C>T ENSP00000507634.1:p.Gln52Ter
ENST00000684261.1:c.154C>T ENSP00000508097.1:p.Gln52Ter
ENST00000684307.1:c.154C>T ENSP00000507202.1:p.Gln52Ter
ENST00000684398.1:c.154C>T ENSP00000507254.1:p.Gln52Ter
XM_005250025.3:c.5470C>T XP_005250082.1:p.Gln1824Ter
XM_005250025.4:c.5470C>T XP_005250082.1:p.Gln1824Ter
XM_005250026.2:c.5467C>T XP_005250083.1:p.Gln1823Ter
XM_005250026.3:c.5467C>T XP_005250083.1:p.Gln1823Ter
XM_005250027.3:c.5470C>T XP_005250084.1:p.Gln1824Ter
XM_005250027.4:c.5470C>T XP_005250084.1:p.Gln1824Ter
XM_005250028.3:c.5470C>T XP_005250085.1:p.Gln1824Ter
XM_005250028.4:c.5470C>T XP_005250085.1:p.Gln1824Ter
XM_005250031.3:c.5470C>T XP_005250088.1:p.Gln1824Ter
XM_005250031.4:c.5470C>T XP_005250088.1:p.Gln1824Ter
XM_006716077.2:c.5470C>T XP_006716140.1:p.Gln1824Ter
XM_006716077.3:c.5470C>T XP_006716140.1:p.Gln1824Ter
XM_006716078.2:c.5470C>T XP_006716141.1:p.Gln1824Ter
XM_006716078.3:c.5470C>T XP_006716141.1:p.Gln1824Ter
XM_006716079.2:c.5470C>T XP_006716142.1:p.Gln1824Ter
XM_006716079.3:c.5470C>T XP_006716142.1:p.Gln1824Ter
XM_011516450.1:c.5422C>T XP_011514752.1:p.Gln1808Ter
XM_011516450.2:c.5422C>T XP_011514752.1:p.Gln1808Ter
XM_011516451.1:c.5350C>T XP_011514753.1:p.Gln1784Ter
XM_011516451.2:c.5350C>T XP_011514753.1:p.Gln1784Ter
XM_011516452.1:c.5317C>T XP_011514754.1:p.Gln1773Ter
XM_011516452.2:c.5317C>T XP_011514754.1:p.Gln1773Ter
XM_011516453.1:c.5470C>T XP_011514755.1:p.Gln1824Ter
XM_011516453.2:c.5470C>T XP_011514755.1:p.Gln1824Ter
XM_011516454.1:c.4555C>T XP_011514756.1:p.Gln1519Ter
XM_011516454.2:c.4555C>T XP_011514756.1:p.Gln1519Ter
XM_011516455.1:c.3016C>T XP_011514757.1:p.Gln1006Ter
XM_011516456.1:c.5422C>T XP_011514758.1:p.Gln1808Ter
XM_011516456.2:c.5422C>T XP_011514758.1:p.Gln1808Ter
XM_017012480.1:c.5470C>T XP_016867969.1:p.Gln1824Ter
XM_017012481.1:c.5467C>T XP_016867970.1:p.Gln1823Ter
XM_017012482.1:c.5470C>T XP_016867971.1:p.Gln1824Ter
XM_017012483.1:c.5470C>T XP_016867972.1:p.Gln1824Ter
XM_017012484.1:c.5437C>T XP_016867973.1:p.Gln1813Ter
XM_017012485.1:c.5419C>T XP_016867974.1:p.Gln1807Ter
XM_017012486.1:c.5470C>T XP_016867975.1:p.Gln1824Ter
XM_017012487.1:c.5323C>T XP_016867976.1:p.Gln1775Ter
XM_017012488.1:c.5287C>T XP_016867977.1:p.Gln1763Ter
XM_017012489.1:c.2140C>T XP_016867978.1:p.Gln714Ter
XM_017012490.2:c.1744C>T XP_016867979.1:p.Gln582Ter
XM_024446852.1:c.5467C>T XP_024302620.1:p.Gln1823Ter
XM_024446853.1:c.5470C>T XP_024302621.1:p.Gln1824Ter
XR_428183.2:n.5678C>T
XR_428183.3:n.5702C>T