Canonical Allele Identifier: CA370093192
Gene: KMT2C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152148830A>C , CM000669.2:g.152148830A>C GRCh38
NC_000007.13:g.151845915A>C , CM000669.1:g.151845915A>C GRCh37
NC_000007.12:g.151476848A>C NCBI36
NG_033948.1:g.292176T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682040.1:c.1285T>G
ENST00000682116.1:n.2229T>G
ENST00000682283.1:c.13268T>G ENSP00000507485.1:p.Ile4423Ser
ENST00000682629.1:n.2397T>G
ENST00000683120.1:n.8289T>G
ENST00000683178.1:c.3670T>G
ENST00000683200.1:c.10607T>G ENSP00000508052.1:p.Ile3536Ser
ENST00000683337.1:n.4727T>G
ENST00000683502.1:c.3742T>G
ENST00000683621.1:n.1863T>G
ENST00000683640.1:n.1813T>G
ENST00000684069.1:c.1514T>G ENSP00000507650.1:p.Ile505Ser
ENST00000684261.1:c.7994T>G ENSP00000508097.1:p.Ile2665Ser
ENST00000684649.1:c.3742T>G
ENST00000262189.11:c.13097T>G MANE Select ENSP00000262189.6:p.Ile4366Ser
ENST00000360104.8:c.8884T>G
ENST00000418061.2:c.3739T>G
ENST00000424877.6:c.3673T>G
ENST00000679393.1:n.7808T>G
ENST00000679560.1:c.7997T>G ENSP00000505094.1:p.Ile2666Ser
ENST00000679882.1:c.12662T>G ENSP00000506154.1:p.Ile4221Ser
ENST00000680029.1:c.3674T>G
ENST00000680877.1:c.7997T>G ENSP00000505724.1:p.Ile2666Ser
ENST00000681923.1:n.2112T>G
ENST00000262189.10:c.13097T>G ENSP00000262189.6:p.Ile4366Ser
ENST00000355193.6:c.13097T>G ENSP00000347325.3:p.Ile4366Ser
ENST00000360104.7:c.5778T>G
ENST00000424877.5:c.2948T>G ENSP00000410411.1:p.Ile983Ser
ENST00000473186.5:n.10979T>G
ENST00000558084.5:c.*10617T>G ENSP00000453752.1:n.*10617T>G
NM_170606.2:c.13097T>G NP_733751.2:p.Ile4366Ser
XM_005250025.3:c.13313T>G XP_005250082.1:p.Ile4438Ser
XM_005250026.2:c.13310T>G XP_005250083.1:p.Ile4437Ser
XM_005250027.3:c.13310T>G XP_005250084.1:p.Ile4437Ser
XM_005250028.3:c.13313T>G XP_005250085.1:p.Ile4438Ser
XM_005250031.3:c.13148T>G XP_005250088.1:p.Ile4383Ser
XM_006716077.2:c.13310T>G XP_006716140.1:p.Ile4437Ser
XM_006716078.2:c.13241T>G XP_006716141.1:p.Ile4414Ser
XM_006716079.2:c.13145T>G XP_006716142.1:p.Ile4382Ser
XM_011516450.1:c.13265T>G XP_011514752.1:p.Ile4422Ser
XM_011516451.1:c.13193T>G XP_011514753.1:p.Ile4398Ser
XM_011516452.1:c.13160T>G XP_011514754.1:p.Ile4387Ser
XM_011516453.1:c.13076T>G XP_011514755.1:p.Ile4359Ser
XM_011516454.1:c.12398T>G XP_011514756.1:p.Ile4133Ser
XM_011516455.1:c.10859T>G XP_011514757.1:p.Ile3620Ser
XM_011516456.1:c.13265T>G XP_011514758.1:p.Ile4422Ser
XM_005250025.4:c.13313T>G XP_005250082.1:p.Ile4438Ser
XM_005250026.3:c.13310T>G XP_005250083.1:p.Ile4437Ser
XM_005250027.4:c.13310T>G XP_005250084.1:p.Ile4437Ser
XM_005250028.4:c.13313T>G XP_005250085.1:p.Ile4438Ser
XM_005250031.4:c.13148T>G XP_005250088.1:p.Ile4383Ser
XM_006716077.3:c.13310T>G XP_006716140.1:p.Ile4437Ser
XM_006716078.3:c.13241T>G XP_006716141.1:p.Ile4414Ser
XM_006716079.3:c.13145T>G XP_006716142.1:p.Ile4382Ser
XM_011516450.2:c.13265T>G XP_011514752.1:p.Ile4422Ser
XM_011516451.2:c.13193T>G XP_011514753.1:p.Ile4398Ser
XM_011516452.2:c.13160T>G XP_011514754.1:p.Ile4387Ser
XM_011516453.2:c.13076T>G XP_011514755.1:p.Ile4359Ser
XM_011516454.2:c.12398T>G XP_011514756.1:p.Ile4133Ser
XM_011516456.2:c.13265T>G XP_011514758.1:p.Ile4422Ser
XM_017012480.1:c.13313T>G XP_016867969.1:p.Ile4438Ser
XM_017012481.1:c.13310T>G XP_016867970.1:p.Ile4437Ser
XM_017012482.1:c.13310T>G XP_016867971.1:p.Ile4437Ser
XM_017012483.1:c.13310T>G XP_016867972.1:p.Ile4437Ser
XM_017012484.1:c.13280T>G XP_016867973.1:p.Ile4427Ser
XM_017012485.1:c.13262T>G XP_016867974.1:p.Ile4421Ser
XM_017012486.1:c.13238T>G XP_016867975.1:p.Ile4413Ser
XM_017012487.1:c.13166T>G XP_016867976.1:p.Ile4389Ser
XM_017012488.1:c.13130T>G XP_016867977.1:p.Ile4377Ser
XM_017012489.1:c.9983T>G XP_016867978.1:p.Ile3328Ser
XM_017012490.2:c.9587T>G XP_016867979.1:p.Ile3196Ser
XM_024446852.1:c.13310T>G XP_024302620.1:p.Ile4437Ser
XM_024446853.1:c.13238T>G XP_024302621.1:p.Ile4413Ser
NM_170606.3:c.13097T>G MANE Select NP_733751.2:p.Ile4366Ser