Canonical Allele Identifier: CA370093216

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151845922T>G (hg19) ; chr7:g.152148837T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148837T>G , CM000669.2:g.152148837T>G	GRCh38
NC_000007.13:g.151845922T>G , CM000669.1:g.151845922T>G	GRCh37
NC_000007.12:g.151476855T>G	NCBI36
NG_033948.1:g.292169A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1278A>C
ENST00000682116.1:n.2222A>C
ENST00000682283.1:c.13261A>C	ENSP00000507485.1:p.Ile4421Leu
ENST00000682629.1:n.2390A>C
ENST00000683120.1:n.8282A>C
ENST00000683178.1:c.3663A>C
ENST00000683200.1:c.10600A>C	ENSP00000508052.1:p.Ile3534Leu
ENST00000683337.1:n.4720A>C
ENST00000683502.1:c.3735A>C
ENST00000683621.1:n.1856A>C
ENST00000683640.1:n.1806A>C
ENST00000684069.1:c.1507A>C	ENSP00000507650.1:p.Ile503Leu
ENST00000684261.1:c.7987A>C	ENSP00000508097.1:p.Ile2663Leu
ENST00000684649.1:c.3735A>C
ENST00000262189.11:c.13090A>C MANE Select	ENSP00000262189.6:p.Ile4364Leu
ENST00000360104.8:c.8877A>C
ENST00000418061.2:c.3732A>C
ENST00000424877.6:c.3666A>C
ENST00000679393.1:n.7801A>C
ENST00000679560.1:c.7990A>C	ENSP00000505094.1:p.Ile2664Leu
ENST00000679882.1:c.12655A>C	ENSP00000506154.1:p.Ile4219Leu
ENST00000680029.1:c.3667A>C
ENST00000680877.1:c.7990A>C	ENSP00000505724.1:p.Ile2664Leu
ENST00000681923.1:n.2105A>C
ENST00000262189.10:c.13090A>C	ENSP00000262189.6:p.Ile4364Leu
ENST00000355193.6:c.13090A>C	ENSP00000347325.3:p.Ile4364Leu
ENST00000360104.7:c.5771A>C
ENST00000424877.5:c.2941A>C	ENSP00000410411.1:p.Ile981Leu
ENST00000473186.5:n.10972A>C
ENST00000558084.5:c.*10610A>C	ENSP00000453752.1:n.*10610A>C
NM_170606.2:c.13090A>C	NP_733751.2:p.Ile4364Leu
XM_005250025.3:c.13306A>C	XP_005250082.1:p.Ile4436Leu
XM_005250026.2:c.13303A>C	XP_005250083.1:p.Ile4435Leu
XM_005250027.3:c.13303A>C	XP_005250084.1:p.Ile4435Leu
XM_005250028.3:c.13306A>C	XP_005250085.1:p.Ile4436Leu
XM_005250031.3:c.13141A>C	XP_005250088.1:p.Ile4381Leu
XM_006716077.2:c.13303A>C	XP_006716140.1:p.Ile4435Leu
XM_006716078.2:c.13234A>C	XP_006716141.1:p.Ile4412Leu
XM_006716079.2:c.13138A>C	XP_006716142.1:p.Ile4380Leu
XM_011516450.1:c.13258A>C	XP_011514752.1:p.Ile4420Leu
XM_011516451.1:c.13186A>C	XP_011514753.1:p.Ile4396Leu
XM_011516452.1:c.13153A>C	XP_011514754.1:p.Ile4385Leu
XM_011516453.1:c.13069A>C	XP_011514755.1:p.Ile4357Leu
XM_011516454.1:c.12391A>C	XP_011514756.1:p.Ile4131Leu
XM_011516455.1:c.10852A>C	XP_011514757.1:p.Ile3618Leu
XM_011516456.1:c.13258A>C	XP_011514758.1:p.Ile4420Leu
XM_005250025.4:c.13306A>C	XP_005250082.1:p.Ile4436Leu
XM_005250026.3:c.13303A>C	XP_005250083.1:p.Ile4435Leu
XM_005250027.4:c.13303A>C	XP_005250084.1:p.Ile4435Leu
XM_005250028.4:c.13306A>C	XP_005250085.1:p.Ile4436Leu
XM_005250031.4:c.13141A>C	XP_005250088.1:p.Ile4381Leu
XM_006716077.3:c.13303A>C	XP_006716140.1:p.Ile4435Leu
XM_006716078.3:c.13234A>C	XP_006716141.1:p.Ile4412Leu
XM_006716079.3:c.13138A>C	XP_006716142.1:p.Ile4380Leu
XM_011516450.2:c.13258A>C	XP_011514752.1:p.Ile4420Leu
XM_011516451.2:c.13186A>C	XP_011514753.1:p.Ile4396Leu
XM_011516452.2:c.13153A>C	XP_011514754.1:p.Ile4385Leu
XM_011516453.2:c.13069A>C	XP_011514755.1:p.Ile4357Leu
XM_011516454.2:c.12391A>C	XP_011514756.1:p.Ile4131Leu
XM_011516456.2:c.13258A>C	XP_011514758.1:p.Ile4420Leu
XM_017012480.1:c.13306A>C	XP_016867969.1:p.Ile4436Leu
XM_017012481.1:c.13303A>C	XP_016867970.1:p.Ile4435Leu
XM_017012482.1:c.13303A>C	XP_016867971.1:p.Ile4435Leu
XM_017012483.1:c.13303A>C	XP_016867972.1:p.Ile4435Leu
XM_017012484.1:c.13273A>C	XP_016867973.1:p.Ile4425Leu
XM_017012485.1:c.13255A>C	XP_016867974.1:p.Ile4419Leu
XM_017012486.1:c.13231A>C	XP_016867975.1:p.Ile4411Leu
XM_017012487.1:c.13159A>C	XP_016867976.1:p.Ile4387Leu
XM_017012488.1:c.13123A>C	XP_016867977.1:p.Ile4375Leu
XM_017012489.1:c.9976A>C	XP_016867978.1:p.Ile3326Leu
XM_017012490.2:c.9580A>C	XP_016867979.1:p.Ile3194Leu
XM_024446852.1:c.13303A>C	XP_024302620.1:p.Ile4435Leu
XM_024446853.1:c.13231A>C	XP_024302621.1:p.Ile4411Leu
NM_170606.3:c.13090A>C MANE Select	NP_733751.2:p.Ile4364Leu