Canonical Allele Identifier: CA169222781
Community Standard Title: NM_170606.3(KMT2C):c.4602G>T (p.Gln1534His)
Gene: KMT2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152194067C>A , CM000669.2:g.152194067C>A GRCh38
NC_000007.13:g.151891152C>A , CM000669.1:g.151891152C>A GRCh37
NC_000007.12:g.151522085C>A NCBI36
NG_033948.1:g.246939G>T

Transcript Alleles

HGVS Amino-acid Change
NM_170606.3:c.4602G>T MANE Select NP_733751.2:p.Gln1534His
ENST00000262189.11:c.4602G>T MANE Select ENSP00000262189.6:p.Gln1534His
NM_170606.2:c.4602G>T NP_733751.2:p.Gln1534His
ENST00000262189.10:c.4602G>T ENSP00000262189.6:p.Gln1534His
ENST00000355193.6:c.4602G>T ENSP00000347325.3:p.Gln1534His
ENST00000360104.8:c.224G>T
ENST00000473186.5:n.2313G>T
ENST00000558084.5:c.*2122G>T ENSP00000453752.1:n.*2122G>T
ENST00000679645.1:c.*695G>T ENSP00000505745.1:n.*695G>T
ENST00000679882.1:c.4377G>T ENSP00000506154.1:p.Gln1459His
ENST00000680969.1:c.1998G>T ENSP00000505951.1:p.Gln666His
ENST00000681033.1:c.3300G>T ENSP00000505058.1:p.Gln1100His
ENST00000682176.1:c.1321G>T
ENST00000682283.1:c.4602G>T ENSP00000507485.1:p.Gln1534His
ENST00000683159.1:c.95G>T
ENST00000683185.1:n.2331G>T
ENST00000683200.1:c.1950G>T ENSP00000508052.1:p.Gln650His
ENST00000683254.1:n.9249G>T
XM_005250025.3:c.4653G>T XP_005250082.1:p.Gln1551His
XM_005250025.4:c.4653G>T XP_005250082.1:p.Gln1551His
XM_005250026.2:c.4650G>T XP_005250083.1:p.Gln1550His
XM_005250026.3:c.4650G>T XP_005250083.1:p.Gln1550His
XM_005250027.3:c.4653G>T XP_005250084.1:p.Gln1551His
XM_005250027.4:c.4653G>T XP_005250084.1:p.Gln1551His
XM_005250028.3:c.4653G>T XP_005250085.1:p.Gln1551His
XM_005250028.4:c.4653G>T XP_005250085.1:p.Gln1551His
XM_005250031.3:c.4653G>T XP_005250088.1:p.Gln1551His
XM_005250031.4:c.4653G>T XP_005250088.1:p.Gln1551His
XM_006716077.2:c.4653G>T XP_006716140.1:p.Gln1551His
XM_006716077.3:c.4653G>T XP_006716140.1:p.Gln1551His
XM_006716078.2:c.4653G>T XP_006716141.1:p.Gln1551His
XM_006716078.3:c.4653G>T XP_006716141.1:p.Gln1551His
XM_006716079.2:c.4653G>T XP_006716142.1:p.Gln1551His
XM_006716079.3:c.4653G>T XP_006716142.1:p.Gln1551His
XM_011516450.1:c.4605G>T XP_011514752.1:p.Gln1535His
XM_011516450.2:c.4605G>T XP_011514752.1:p.Gln1535His
XM_011516451.1:c.4533G>T XP_011514753.1:p.Gln1511His
XM_011516451.2:c.4533G>T XP_011514753.1:p.Gln1511His
XM_011516452.1:c.4500G>T XP_011514754.1:p.Gln1500His
XM_011516452.2:c.4500G>T XP_011514754.1:p.Gln1500His
XM_011516453.1:c.4653G>T XP_011514755.1:p.Gln1551His
XM_011516453.2:c.4653G>T XP_011514755.1:p.Gln1551His
XM_011516454.1:c.3738G>T XP_011514756.1:p.Gln1246His
XM_011516454.2:c.3738G>T XP_011514756.1:p.Gln1246His
XM_011516455.1:c.2199G>T XP_011514757.1:p.Gln733His
XM_011516456.1:c.4605G>T XP_011514758.1:p.Gln1535His
XM_011516456.2:c.4605G>T XP_011514758.1:p.Gln1535His
XM_017012480.1:c.4653G>T XP_016867969.1:p.Gln1551His
XM_017012481.1:c.4650G>T XP_016867970.1:p.Gln1550His
XM_017012482.1:c.4653G>T XP_016867971.1:p.Gln1551His
XM_017012483.1:c.4653G>T XP_016867972.1:p.Gln1551His
XM_017012484.1:c.4620G>T XP_016867973.1:p.Gln1540His
XM_017012485.1:c.4602G>T XP_016867974.1:p.Gln1534His
XM_017012486.1:c.4653G>T XP_016867975.1:p.Gln1551His
XM_017012487.1:c.4506G>T XP_016867976.1:p.Gln1502His
XM_017012488.1:c.4653G>T XP_016867977.1:p.Gln1551His
XM_017012489.1:c.1323G>T XP_016867978.1:p.Gln441His
XM_017012490.2:c.927G>T XP_016867979.1:p.Gln309His
XM_024446852.1:c.4650G>T XP_024302620.1:p.Gln1550His
XM_024446853.1:c.4653G>T XP_024302621.1:p.Gln1551His
XR_428183.2:n.4861G>T
XR_428183.3:n.4885G>T