Canonical Allele Identifier: CA370091499
Community Standard Title: NM_170606.3(KMT2C):c.13334G>A (p.Gly4445Asp)
Gene: KMT2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152148593C>T , CM000669.2:g.152148593C>T GRCh38
NC_000007.13:g.151845678C>T , CM000669.1:g.151845678C>T GRCh37
NC_000007.12:g.151476611C>T NCBI36
NG_033948.1:g.292413G>A

Transcript Alleles

HGVS Amino-acid Change
NM_170606.3:c.13334G>A MANE Select NP_733751.2:p.Gly4445Asp
ENST00000262189.11:c.13334G>A MANE Select ENSP00000262189.6:p.Gly4445Asp
NM_170606.2:c.13334G>A NP_733751.2:p.Gly4445Asp
ENST00000262189.10:c.13334G>A ENSP00000262189.6:p.Gly4445Asp
ENST00000355193.6:c.13334G>A ENSP00000347325.3:p.Gly4445Asp
ENST00000360104.7:c.6015G>A
ENST00000360104.8:c.9121G>A
ENST00000418061.2:c.3976G>A
ENST00000424877.5:c.3185G>A ENSP00000410411.1:p.Gly1062Asp
ENST00000424877.6:c.3910G>A
ENST00000473186.5:n.11216G>A
ENST00000558084.5:c.*10854G>A ENSP00000453752.1:n.*10854G>A
ENST00000679393.1:n.8045G>A
ENST00000679560.1:c.8234G>A ENSP00000505094.1:p.Gly2745Asp
ENST00000679882.1:c.12899G>A ENSP00000506154.1:p.Gly4300Asp
ENST00000680029.1:c.3911G>A
ENST00000680877.1:c.8234G>A ENSP00000505724.1:p.Gly2745Asp
ENST00000681923.1:n.2349G>A
ENST00000682040.1:c.1522G>A
ENST00000682116.1:n.2466G>A
ENST00000682283.1:c.13505G>A ENSP00000507485.1:p.Gly4502Asp
ENST00000682629.1:n.2634G>A
ENST00000683120.1:n.8526G>A
ENST00000683178.1:c.3907G>A
ENST00000683200.1:c.10844G>A ENSP00000508052.1:p.Gly3615Asp
ENST00000683337.1:n.4964G>A
ENST00000683502.1:c.3979G>A
ENST00000683621.1:n.2100G>A
ENST00000683640.1:n.2050G>A
ENST00000684069.1:c.1751G>A ENSP00000507650.1:p.Gly584Asp
ENST00000684261.1:c.8231G>A ENSP00000508097.1:p.Gly2744Asp
ENST00000684391.1:n.92G>A
ENST00000684649.1:c.3979G>A
XM_005250025.3:c.13550G>A XP_005250082.1:p.Gly4517Asp
XM_005250025.4:c.13550G>A XP_005250082.1:p.Gly4517Asp
XM_005250026.2:c.13547G>A XP_005250083.1:p.Gly4516Asp
XM_005250026.3:c.13547G>A XP_005250083.1:p.Gly4516Asp
XM_005250027.3:c.13547G>A XP_005250084.1:p.Gly4516Asp
XM_005250027.4:c.13547G>A XP_005250084.1:p.Gly4516Asp
XM_005250028.3:c.13550G>A XP_005250085.1:p.Gly4517Asp
XM_005250028.4:c.13550G>A XP_005250085.1:p.Gly4517Asp
XM_005250031.3:c.13385G>A XP_005250088.1:p.Gly4462Asp
XM_005250031.4:c.13385G>A XP_005250088.1:p.Gly4462Asp
XM_006716077.2:c.13547G>A XP_006716140.1:p.Gly4516Asp
XM_006716077.3:c.13547G>A XP_006716140.1:p.Gly4516Asp
XM_006716078.2:c.13478G>A XP_006716141.1:p.Gly4493Asp
XM_006716078.3:c.13478G>A XP_006716141.1:p.Gly4493Asp
XM_006716079.2:c.13382G>A XP_006716142.1:p.Gly4461Asp
XM_006716079.3:c.13382G>A XP_006716142.1:p.Gly4461Asp
XM_011516450.1:c.13502G>A XP_011514752.1:p.Gly4501Asp
XM_011516450.2:c.13502G>A XP_011514752.1:p.Gly4501Asp
XM_011516451.1:c.13430G>A XP_011514753.1:p.Gly4477Asp
XM_011516451.2:c.13430G>A XP_011514753.1:p.Gly4477Asp
XM_011516452.1:c.13397G>A XP_011514754.1:p.Gly4466Asp
XM_011516452.2:c.13397G>A XP_011514754.1:p.Gly4466Asp
XM_011516453.1:c.13313G>A XP_011514755.1:p.Gly4438Asp
XM_011516453.2:c.13313G>A XP_011514755.1:p.Gly4438Asp
XM_011516454.1:c.12635G>A XP_011514756.1:p.Gly4212Asp
XM_011516454.2:c.12635G>A XP_011514756.1:p.Gly4212Asp
XM_011516455.1:c.11096G>A XP_011514757.1:p.Gly3699Asp
XM_011516456.1:c.13502G>A XP_011514758.1:p.Gly4501Asp
XM_011516456.2:c.13502G>A XP_011514758.1:p.Gly4501Asp
XM_017012480.1:c.13550G>A XP_016867969.1:p.Gly4517Asp
XM_017012481.1:c.13547G>A XP_016867970.1:p.Gly4516Asp
XM_017012482.1:c.13547G>A XP_016867971.1:p.Gly4516Asp
XM_017012483.1:c.13547G>A XP_016867972.1:p.Gly4516Asp
XM_017012484.1:c.13517G>A XP_016867973.1:p.Gly4506Asp
XM_017012485.1:c.13499G>A XP_016867974.1:p.Gly4500Asp
XM_017012486.1:c.13475G>A XP_016867975.1:p.Gly4492Asp
XM_017012487.1:c.13403G>A XP_016867976.1:p.Gly4468Asp
XM_017012488.1:c.13367G>A XP_016867977.1:p.Gly4456Asp
XM_017012489.1:c.10220G>A XP_016867978.1:p.Gly3407Asp
XM_017012490.2:c.9824G>A XP_016867979.1:p.Gly3275Asp
XM_024446852.1:c.13547G>A XP_024302620.1:p.Gly4516Asp
XM_024446853.1:c.13475G>A XP_024302621.1:p.Gly4492Asp