Canonical Allele Identifier: CA160759

Gene: KMT2C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152163588G>C , CM000669.2:g.152163588G>C	GRCh38
NC_000007.13:g.151860673G>C , CM000669.1:g.151860673G>C	GRCh37
NC_000007.12:g.151491606G>C	NCBI36
NG_033948.1:g.277418C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_170606.3:c.9989C>G MANE Select	NP_733751.2:p.Pro3330Arg
ENST00000262189.11:c.9989C>G MANE Select	ENSP00000262189.6:p.Pro3330Arg
NM_170606.2:c.9989C>G	NP_733751.2:p.Pro3330Arg
ENST00000262189.10:c.9989C>G	ENSP00000262189.6:p.Pro3330Arg
ENST00000355193.6:c.9989C>G	ENSP00000347325.3:p.Pro3330Arg
ENST00000360104.7:c.2505C>G
ENST00000360104.8:c.5611C>G
ENST00000418061.2:c.472C>G
ENST00000424877.6:c.472C>G
ENST00000473186.5:n.7700C>G
ENST00000558084.5:c.*7509C>G	ENSP00000453752.1:n.*7509C>G
ENST00000679393.1:n.3480C>G
ENST00000679560.1:c.4724C>G	ENSP00000505094.1:p.Pro1575Arg
ENST00000679882.1:c.9764C>G	ENSP00000506154.1:p.Pro3255Arg
ENST00000680029.1:c.472C>G
ENST00000680877.1:c.4724C>G	ENSP00000505724.1:p.Pro1575Arg
ENST00000680969.1:c.7385C>G	ENSP00000505951.1:p.Pro2462Arg
ENST00000682283.1:c.9989C>G	ENSP00000507485.1:p.Pro3330Arg
ENST00000683120.1:n.1975C>G
ENST00000683178.1:c.472C>G
ENST00000683200.1:c.7337C>G	ENSP00000508052.1:p.Pro2446Arg
ENST00000683397.1:c.4747C>G	ENSP00000507053.1:n.4747C>G
ENST00000683502.1:c.472C>G
ENST00000683625.1:c.4612+112C>G	ENSP00000507769.1:n.4612+112C>G
ENST00000683670.1:c.4724C>G	ENSP00000507634.1:p.Pro1575Arg
ENST00000684261.1:c.4724C>G	ENSP00000508097.1:p.Pro1575Arg
ENST00000684307.1:c.4660C>G	ENSP00000507202.1:n.4660C>G
ENST00000684398.1:c.4724C>G	ENSP00000507254.1:p.Pro1575Arg
ENST00000684649.1:c.472C>G
XM_005250025.3:c.10040C>G	XP_005250082.1:p.Pro3347Arg
XM_005250025.4:c.10040C>G	XP_005250082.1:p.Pro3347Arg
XM_005250026.2:c.10037C>G	XP_005250083.1:p.Pro3346Arg
XM_005250026.3:c.10037C>G	XP_005250083.1:p.Pro3346Arg
XM_005250027.3:c.10040C>G	XP_005250084.1:p.Pro3347Arg
XM_005250027.4:c.10040C>G	XP_005250084.1:p.Pro3347Arg
XM_005250028.3:c.10040C>G	XP_005250085.1:p.Pro3347Arg
XM_005250028.4:c.10040C>G	XP_005250085.1:p.Pro3347Arg
XM_005250031.3:c.10040C>G	XP_005250088.1:p.Pro3347Arg
XM_005250031.4:c.10040C>G	XP_005250088.1:p.Pro3347Arg
XM_006716077.2:c.10040C>G	XP_006716140.1:p.Pro3347Arg
XM_006716077.3:c.10040C>G	XP_006716140.1:p.Pro3347Arg
XM_006716078.2:c.10040C>G	XP_006716141.1:p.Pro3347Arg
XM_006716078.3:c.10040C>G	XP_006716141.1:p.Pro3347Arg
XM_006716079.2:c.10040C>G	XP_006716142.1:p.Pro3347Arg
XM_006716079.3:c.10040C>G	XP_006716142.1:p.Pro3347Arg
XM_011516450.1:c.9992C>G	XP_011514752.1:p.Pro3331Arg
XM_011516450.2:c.9992C>G	XP_011514752.1:p.Pro3331Arg
XM_011516451.1:c.9920C>G	XP_011514753.1:p.Pro3307Arg
XM_011516451.2:c.9920C>G	XP_011514753.1:p.Pro3307Arg
XM_011516452.1:c.9887C>G	XP_011514754.1:p.Pro3296Arg
XM_011516452.2:c.9887C>G	XP_011514754.1:p.Pro3296Arg
XM_011516453.1:c.10040C>G	XP_011514755.1:p.Pro3347Arg
XM_011516453.2:c.10040C>G	XP_011514755.1:p.Pro3347Arg
XM_011516454.1:c.9125C>G	XP_011514756.1:p.Pro3042Arg
XM_011516454.2:c.9125C>G	XP_011514756.1:p.Pro3042Arg
XM_011516455.1:c.7586C>G	XP_011514757.1:p.Pro2529Arg
XM_011516456.1:c.9992C>G	XP_011514758.1:p.Pro3331Arg
XM_011516456.2:c.9992C>G	XP_011514758.1:p.Pro3331Arg
XM_017012480.1:c.10040C>G	XP_016867969.1:p.Pro3347Arg
XM_017012481.1:c.10037C>G	XP_016867970.1:p.Pro3346Arg
XM_017012482.1:c.10040C>G	XP_016867971.1:p.Pro3347Arg
XM_017012483.1:c.10040C>G	XP_016867972.1:p.Pro3347Arg
XM_017012484.1:c.10007C>G	XP_016867973.1:p.Pro3336Arg
XM_017012485.1:c.9989C>G	XP_016867974.1:p.Pro3330Arg
XM_017012486.1:c.10040C>G	XP_016867975.1:p.Pro3347Arg
XM_017012487.1:c.9893C>G	XP_016867976.1:p.Pro3298Arg
XM_017012488.1:c.9857C>G	XP_016867977.1:p.Pro3286Arg
XM_017012489.1:c.6710C>G	XP_016867978.1:p.Pro2237Arg
XM_017012490.2:c.6314C>G	XP_016867979.1:p.Pro2105Arg
XM_024446852.1:c.10037C>G	XP_024302620.1:p.Pro3346Arg
XM_024446853.1:c.10040C>G	XP_024302621.1:p.Pro3347Arg
XR_428183.2:n.10248C>G
XR_428183.3:n.10272C>G