Canonical Allele Identifier: CA370108944
Community Standard Title: NM_170606.3(KMT2C):c.3599C>G (p.Ser1200Ter)
Gene: KMT2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152220636G>C , CM000669.2:g.152220636G>C GRCh38
NC_000007.13:g.151917721G>C , CM000669.1:g.151917721G>C GRCh37
NC_000007.12:g.151548654G>C NCBI36
NG_033948.1:g.220370C>G

Transcript Alleles

HGVS Amino-acid Change
NM_170606.3:c.3599C>G MANE Select NP_733751.2:p.Ser1200Ter
ENST00000262189.11:c.3599C>G MANE Select ENSP00000262189.6:p.Ser1200Ter
NM_170606.2:c.3599C>G NP_733751.2:p.Ser1200Ter
ENST00000262189.10:c.3599C>G ENSP00000262189.6:p.Ser1200Ter
ENST00000355193.6:c.3599C>G ENSP00000347325.3:p.Ser1200Ter
ENST00000418673.2:c.947C>G ENSP00000403483.2:p.Ser316Ter
ENST00000473186.5:n.1310C>G
ENST00000489110.1:n.167C>G
ENST00000489110.2:n.1109C>G
ENST00000558084.5:c.*1119C>G ENSP00000453752.1:n.*1119C>G
ENST00000679645.1:c.2976+9287C>G ENSP00000505745.1:n.2976+9287C>G
ENST00000679882.1:c.3479C>G ENSP00000506154.1:p.Ser1160Ter
ENST00000680969.1:c.947C>G ENSP00000505951.1:p.Ser316Ter
ENST00000681033.1:c.2300C>G ENSP00000505058.1:p.Ser767Ter
ENST00000681838.1:c.947C>G ENSP00000505661.1:p.Ser316Ter
ENST00000682176.1:c.276C>G
ENST00000682283.1:c.3599C>G ENSP00000507485.1:p.Ser1200Ter
ENST00000683200.1:c.947C>G ENSP00000508052.1:p.Ser316Ter
ENST00000683490.1:c.3599C>G ENSP00000507385.1:p.Ser1200Ter
ENST00000684140.1:c.600C>G ENSP00000508026.1:n.600C>G
ENST00000684550.1:c.3599C>G ENSP00000507135.1:p.Ser1200Ter
ENST00000684623.1:n.2477C>G
XM_005250025.3:c.3602C>G XP_005250082.1:p.Ser1201Ter
XM_005250025.4:c.3602C>G XP_005250082.1:p.Ser1201Ter
XM_005250026.2:c.3599C>G XP_005250083.1:p.Ser1200Ter
XM_005250026.3:c.3599C>G XP_005250083.1:p.Ser1200Ter
XM_005250027.3:c.3602C>G XP_005250084.1:p.Ser1201Ter
XM_005250027.4:c.3602C>G XP_005250084.1:p.Ser1201Ter
XM_005250028.3:c.3602C>G XP_005250085.1:p.Ser1201Ter
XM_005250028.4:c.3602C>G XP_005250085.1:p.Ser1201Ter
XM_005250031.3:c.3602C>G XP_005250088.1:p.Ser1201Ter
XM_005250031.4:c.3602C>G XP_005250088.1:p.Ser1201Ter
XM_006716077.2:c.3602C>G XP_006716140.1:p.Ser1201Ter
XM_006716077.3:c.3602C>G XP_006716140.1:p.Ser1201Ter
XM_006716078.2:c.3602C>G XP_006716141.1:p.Ser1201Ter
XM_006716078.3:c.3602C>G XP_006716141.1:p.Ser1201Ter
XM_006716079.2:c.3602C>G XP_006716142.1:p.Ser1201Ter
XM_006716079.3:c.3602C>G XP_006716142.1:p.Ser1201Ter
XM_011516450.1:c.3602C>G XP_011514752.1:p.Ser1201Ter
XM_011516450.2:c.3602C>G XP_011514752.1:p.Ser1201Ter
XM_011516451.1:c.3482C>G XP_011514753.1:p.Ser1161Ter
XM_011516451.2:c.3482C>G XP_011514753.1:p.Ser1161Ter
XM_011516452.1:c.3602C>G XP_011514754.1:p.Ser1201Ter
XM_011516452.2:c.3602C>G XP_011514754.1:p.Ser1201Ter
XM_011516453.1:c.3602C>G XP_011514755.1:p.Ser1201Ter
XM_011516453.2:c.3602C>G XP_011514755.1:p.Ser1201Ter
XM_011516454.1:c.2687C>G XP_011514756.1:p.Ser896Ter
XM_011516454.2:c.2687C>G XP_011514756.1:p.Ser896Ter
XM_011516455.1:c.1148C>G XP_011514757.1:p.Ser383Ter
XM_011516456.1:c.3602C>G XP_011514758.1:p.Ser1201Ter
XM_011516456.2:c.3602C>G XP_011514758.1:p.Ser1201Ter
XM_017012480.1:c.3602C>G XP_016867969.1:p.Ser1201Ter
XM_017012481.1:c.3599C>G XP_016867970.1:p.Ser1200Ter
XM_017012482.1:c.3602C>G XP_016867971.1:p.Ser1201Ter
XM_017012483.1:c.3602C>G XP_016867972.1:p.Ser1201Ter
XM_017012484.1:c.3569C>G XP_016867973.1:p.Ser1190Ter
XM_017012485.1:c.3599C>G XP_016867974.1:p.Ser1200Ter
XM_017012486.1:c.3602C>G XP_016867975.1:p.Ser1201Ter
XM_017012487.1:c.3455C>G XP_016867976.1:p.Ser1152Ter
XM_017012488.1:c.3602C>G XP_016867977.1:p.Ser1201Ter
XM_017012489.1:c.272C>G XP_016867978.1:p.Ser91Ter
XM_017012490.2:c.-12+9287C>G XP_016867979.1:n.-12+9287C>G
XM_024446852.1:c.3602C>G XP_024302620.1:p.Ser1201Ter
XM_024446853.1:c.3602C>G XP_024302621.1:p.Ser1201Ter
XR_428183.2:n.3810C>G
XR_428183.3:n.3834C>G