Canonical Allele Identifier: CA4578504
Community Standard Title: NM_170606.3(KMT2C):c.14068C>T (p.Arg4690Ter)
Gene: KMT2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152145259G>A , CM000669.2:g.152145259G>A GRCh38
NC_000007.13:g.151842344G>A , CM000669.1:g.151842344G>A GRCh37
NC_000007.12:g.151473277G>A NCBI36
NG_033948.1:g.295747C>T

Transcript Alleles

HGVS Amino-acid Change
NM_170606.3:c.14068C>T MANE Select NP_733751.2:p.Arg4690Ter
ENST00000262189.11:c.14068C>T MANE Select ENSP00000262189.6:p.Arg4690Ter
NM_170606.2:c.14068C>T NP_733751.2:p.Arg4690Ter
ENST00000262189.10:c.14068C>T ENSP00000262189.6:p.Arg4690Ter
ENST00000355193.6:c.14068C>T ENSP00000347325.3:p.Arg4690Ter
ENST00000360104.7:c.6749C>T
ENST00000360104.8:c.9855C>T
ENST00000418061.2:c.4710C>T
ENST00000424877.5:c.3919C>T ENSP00000410411.1:p.Arg1307Ter
ENST00000424877.6:c.4644C>T
ENST00000473186.5:n.11950C>T
ENST00000558084.5:c.*11588C>T ENSP00000453752.1:n.*11588C>T
ENST00000679393.1:n.8779C>T
ENST00000679560.1:c.8968C>T ENSP00000505094.1:p.Arg2990Ter
ENST00000679567.1:n.553C>T
ENST00000679882.1:c.13633C>T ENSP00000506154.1:p.Arg4545Ter
ENST00000680029.1:c.4645C>T
ENST00000680877.1:c.8968C>T ENSP00000505724.1:p.Arg2990Ter
ENST00000681923.1:n.3083C>T
ENST00000682040.1:c.3200C>T
ENST00000682116.1:n.3200C>T
ENST00000682137.1:n.487C>T
ENST00000682283.1:c.14239C>T ENSP00000507485.1:p.Arg4747Ter
ENST00000682629.1:n.3368C>T
ENST00000683120.1:n.9260C>T
ENST00000683178.1:c.4641C>T
ENST00000683200.1:c.11578C>T ENSP00000508052.1:p.Arg3860Ter
ENST00000683337.1:n.5698C>T
ENST00000683502.1:c.4713C>T
ENST00000683621.1:n.2834C>T
ENST00000683640.1:n.2784C>T
ENST00000684261.1:c.8965C>T ENSP00000508097.1:p.Arg2989Ter
ENST00000684649.1:c.4713C>T
ENST00000684768.1:n.270C>T
XM_005250025.3:c.14284C>T XP_005250082.1:p.Arg4762Ter
XM_005250025.4:c.14284C>T XP_005250082.1:p.Arg4762Ter
XM_005250026.2:c.14281C>T XP_005250083.1:p.Arg4761Ter
XM_005250026.3:c.14281C>T XP_005250083.1:p.Arg4761Ter
XM_005250027.3:c.14281C>T XP_005250084.1:p.Arg4761Ter
XM_005250027.4:c.14281C>T XP_005250084.1:p.Arg4761Ter
XM_005250028.3:c.14284C>T XP_005250085.1:p.Arg4762Ter
XM_005250028.4:c.14284C>T XP_005250085.1:p.Arg4762Ter
XM_005250031.3:c.14119C>T XP_005250088.1:p.Arg4707Ter
XM_005250031.4:c.14119C>T XP_005250088.1:p.Arg4707Ter
XM_006716077.2:c.14281C>T XP_006716140.1:p.Arg4761Ter
XM_006716077.3:c.14281C>T XP_006716140.1:p.Arg4761Ter
XM_006716078.2:c.14212C>T XP_006716141.1:p.Arg4738Ter
XM_006716078.3:c.14212C>T XP_006716141.1:p.Arg4738Ter
XM_006716079.2:c.14116C>T XP_006716142.1:p.Arg4706Ter
XM_006716079.3:c.14116C>T XP_006716142.1:p.Arg4706Ter
XM_011516450.1:c.14236C>T XP_011514752.1:p.Arg4746Ter
XM_011516450.2:c.14236C>T XP_011514752.1:p.Arg4746Ter
XM_011516451.1:c.14164C>T XP_011514753.1:p.Arg4722Ter
XM_011516451.2:c.14164C>T XP_011514753.1:p.Arg4722Ter
XM_011516452.1:c.14131C>T XP_011514754.1:p.Arg4711Ter
XM_011516452.2:c.14131C>T XP_011514754.1:p.Arg4711Ter
XM_011516453.1:c.14047C>T XP_011514755.1:p.Arg4683Ter
XM_011516453.2:c.14047C>T XP_011514755.1:p.Arg4683Ter
XM_011516454.1:c.13369C>T XP_011514756.1:p.Arg4457Ter
XM_011516454.2:c.13369C>T XP_011514756.1:p.Arg4457Ter
XM_011516455.1:c.11830C>T XP_011514757.1:p.Arg3944Ter
XM_011516456.1:c.14236C>T XP_011514758.1:p.Arg4746Ter
XM_011516456.2:c.14236C>T XP_011514758.1:p.Arg4746Ter
XM_017012480.1:c.14284C>T XP_016867969.1:p.Arg4762Ter
XM_017012481.1:c.14281C>T XP_016867970.1:p.Arg4761Ter
XM_017012482.1:c.14281C>T XP_016867971.1:p.Arg4761Ter
XM_017012483.1:c.14281C>T XP_016867972.1:p.Arg4761Ter
XM_017012484.1:c.14251C>T XP_016867973.1:p.Arg4751Ter
XM_017012485.1:c.14233C>T XP_016867974.1:p.Arg4745Ter
XM_017012486.1:c.14209C>T XP_016867975.1:p.Arg4737Ter
XM_017012487.1:c.14137C>T XP_016867976.1:p.Arg4713Ter
XM_017012488.1:c.14101C>T XP_016867977.1:p.Arg4701Ter
XM_017012489.1:c.10954C>T XP_016867978.1:p.Arg3652Ter
XM_017012490.2:c.10558C>T XP_016867979.1:p.Arg3520Ter
XM_024446852.1:c.14281C>T XP_024302620.1:p.Arg4761Ter
XM_024446853.1:c.14209C>T XP_024302621.1:p.Arg4737Ter