Canonical Allele Identifier: CA4578799
Community Standard Title: NM_170606.3(KMT2C):c.12444G>T (p.Pro4148=)
Gene: KMT2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152152787C>A , CM000669.2:g.152152787C>A GRCh38
NC_000007.13:g.151849872C>A , CM000669.1:g.151849872C>A GRCh37
NC_000007.12:g.151480805C>A NCBI36
NG_033948.1:g.288219G>T

Transcript Alleles

HGVS Amino-acid Change
NM_170606.3:c.12444G>T MANE Select NP_733751.2:p.Pro4148=
ENST00000262189.11:c.12444G>T MANE Select ENSP00000262189.6:p.Pro4148=
NM_170606.2:c.12444G>T NP_733751.2:p.Pro4148=
ENST00000262189.10:c.12444G>T ENSP00000262189.6:p.Pro4148=
ENST00000355193.6:c.12444G>T ENSP00000347325.3:p.Pro4148=
ENST00000360104.7:c.5125G>T
ENST00000360104.8:c.8231G>T
ENST00000418061.2:c.3086G>T
ENST00000424877.5:c.2295G>T ENSP00000410411.1:p.Pro765=
ENST00000424877.6:c.3020G>T
ENST00000473186.5:n.10326G>T
ENST00000485241.2:n.581G>T
ENST00000558084.5:c.*9964G>T ENSP00000453752.1:n.*9964G>T
ENST00000679393.1:n.7155G>T
ENST00000679560.1:c.7344G>T ENSP00000505094.1:p.Pro2448=
ENST00000679882.1:c.12009G>T ENSP00000506154.1:p.Pro4003=
ENST00000680029.1:c.3021G>T
ENST00000680877.1:c.7344G>T ENSP00000505724.1:p.Pro2448=
ENST00000681923.1:n.1459G>T
ENST00000682040.1:c.632G>T
ENST00000682283.1:c.12615G>T ENSP00000507485.1:p.Pro4205=
ENST00000682629.1:n.187G>T
ENST00000683120.1:n.7636G>T
ENST00000683178.1:c.3017G>T
ENST00000683200.1:c.9954G>T ENSP00000508052.1:p.Pro3318=
ENST00000683337.1:n.4074G>T
ENST00000683502.1:c.3089G>T
ENST00000683640.1:n.37G>T
ENST00000683886.1:n.2202G>T
ENST00000684069.1:c.861G>T ENSP00000507650.1:p.Pro287=
ENST00000684261.1:c.7341G>T ENSP00000508097.1:p.Pro2447=
ENST00000684330.1:n.3402G>T
ENST00000684649.1:c.3089G>T
XM_005250025.3:c.12660G>T XP_005250082.1:p.Pro4220=
XM_005250025.4:c.12660G>T XP_005250082.1:p.Pro4220=
XM_005250026.2:c.12657G>T XP_005250083.1:p.Pro4219=
XM_005250026.3:c.12657G>T XP_005250083.1:p.Pro4219=
XM_005250027.3:c.12657G>T XP_005250084.1:p.Pro4219=
XM_005250027.4:c.12657G>T XP_005250084.1:p.Pro4219=
XM_005250028.3:c.12660G>T XP_005250085.1:p.Pro4220=
XM_005250028.4:c.12660G>T XP_005250085.1:p.Pro4220=
XM_005250031.3:c.12495G>T XP_005250088.1:p.Pro4165=
XM_005250031.4:c.12495G>T XP_005250088.1:p.Pro4165=
XM_006716077.2:c.12657G>T XP_006716140.1:p.Pro4219=
XM_006716077.3:c.12657G>T XP_006716140.1:p.Pro4219=
XM_006716078.2:c.12588G>T XP_006716141.1:p.Pro4196=
XM_006716078.3:c.12588G>T XP_006716141.1:p.Pro4196=
XM_006716079.2:c.12492G>T XP_006716142.1:p.Pro4164=
XM_006716079.3:c.12492G>T XP_006716142.1:p.Pro4164=
XM_011516450.1:c.12612G>T XP_011514752.1:p.Pro4204=
XM_011516450.2:c.12612G>T XP_011514752.1:p.Pro4204=
XM_011516451.1:c.12540G>T XP_011514753.1:p.Pro4180=
XM_011516451.2:c.12540G>T XP_011514753.1:p.Pro4180=
XM_011516452.1:c.12507G>T XP_011514754.1:p.Pro4169=
XM_011516452.2:c.12507G>T XP_011514754.1:p.Pro4169=
XM_011516453.1:c.12423G>T XP_011514755.1:p.Pro4141=
XM_011516453.2:c.12423G>T XP_011514755.1:p.Pro4141=
XM_011516454.1:c.11745G>T XP_011514756.1:p.Pro3915=
XM_011516454.2:c.11745G>T XP_011514756.1:p.Pro3915=
XM_011516455.1:c.10206G>T XP_011514757.1:p.Pro3402=
XM_011516456.1:c.12612G>T XP_011514758.1:p.Pro4204=
XM_011516456.2:c.12612G>T XP_011514758.1:p.Pro4204=
XM_017012480.1:c.12660G>T XP_016867969.1:p.Pro4220=
XM_017012481.1:c.12657G>T XP_016867970.1:p.Pro4219=
XM_017012482.1:c.12657G>T XP_016867971.1:p.Pro4219=
XM_017012483.1:c.12657G>T XP_016867972.1:p.Pro4219=
XM_017012484.1:c.12627G>T XP_016867973.1:p.Pro4209=
XM_017012485.1:c.12609G>T XP_016867974.1:p.Pro4203=
XM_017012486.1:c.12585G>T XP_016867975.1:p.Pro4195=
XM_017012487.1:c.12513G>T XP_016867976.1:p.Pro4171=
XM_017012488.1:c.12477G>T XP_016867977.1:p.Pro4159=
XM_017012489.1:c.9330G>T XP_016867978.1:p.Pro3110=
XM_017012490.2:c.8934G>T XP_016867979.1:p.Pro2978=
XM_024446852.1:c.12657G>T XP_024302620.1:p.Pro4219=
XM_024446853.1:c.12585G>T XP_024302621.1:p.Pro4195=