Canonical Allele Identifier: CA370093213

Gene: KMT2C

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1278A>T
ENST00000682116.1:n.2222A>T
ENST00000682283.1:c.13261A>T	ENSP00000507485.1:p.Ile4421Phe
ENST00000682629.1:n.2390A>T
ENST00000683120.1:n.8282A>T
ENST00000683178.1:c.3663A>T
ENST00000683200.1:c.10600A>T	ENSP00000508052.1:p.Ile3534Phe
ENST00000683337.1:n.4720A>T
ENST00000683502.1:c.3735A>T
ENST00000683621.1:n.1856A>T
ENST00000683640.1:n.1806A>T
ENST00000684069.1:c.1507A>T	ENSP00000507650.1:p.Ile503Phe
ENST00000684261.1:c.7987A>T	ENSP00000508097.1:p.Ile2663Phe
ENST00000684649.1:c.3735A>T
ENST00000262189.11:c.13090A>T MANE Select	ENSP00000262189.6:p.Ile4364Phe
ENST00000360104.8:c.8877A>T
ENST00000418061.2:c.3732A>T
ENST00000424877.6:c.3666A>T
ENST00000679393.1:n.7801A>T
ENST00000679560.1:c.7990A>T	ENSP00000505094.1:p.Ile2664Phe
ENST00000679882.1:c.12655A>T	ENSP00000506154.1:p.Ile4219Phe
ENST00000680029.1:c.3667A>T
ENST00000680877.1:c.7990A>T	ENSP00000505724.1:p.Ile2664Phe
ENST00000681923.1:n.2105A>T
ENST00000262189.10:c.13090A>T	ENSP00000262189.6:p.Ile4364Phe
ENST00000355193.6:c.13090A>T	ENSP00000347325.3:p.Ile4364Phe
ENST00000360104.7:c.5771A>T
ENST00000424877.5:c.2941A>T	ENSP00000410411.1:p.Ile981Phe
ENST00000473186.5:n.10972A>T
ENST00000558084.5:c.*10610A>T	ENSP00000453752.1:n.*10610A>T
NM_170606.2:c.13090A>T	NP_733751.2:p.Ile4364Phe
XM_005250025.3:c.13306A>T	XP_005250082.1:p.Ile4436Phe
XM_005250026.2:c.13303A>T	XP_005250083.1:p.Ile4435Phe
XM_005250027.3:c.13303A>T	XP_005250084.1:p.Ile4435Phe
XM_005250028.3:c.13306A>T	XP_005250085.1:p.Ile4436Phe
XM_005250031.3:c.13141A>T	XP_005250088.1:p.Ile4381Phe
XM_006716077.2:c.13303A>T	XP_006716140.1:p.Ile4435Phe
XM_006716078.2:c.13234A>T	XP_006716141.1:p.Ile4412Phe
XM_006716079.2:c.13138A>T	XP_006716142.1:p.Ile4380Phe
XM_011516450.1:c.13258A>T	XP_011514752.1:p.Ile4420Phe
XM_011516451.1:c.13186A>T	XP_011514753.1:p.Ile4396Phe
XM_011516452.1:c.13153A>T	XP_011514754.1:p.Ile4385Phe
XM_011516453.1:c.13069A>T	XP_011514755.1:p.Ile4357Phe
XM_011516454.1:c.12391A>T	XP_011514756.1:p.Ile4131Phe
XM_011516455.1:c.10852A>T	XP_011514757.1:p.Ile3618Phe
XM_011516456.1:c.13258A>T	XP_011514758.1:p.Ile4420Phe
XM_005250025.4:c.13306A>T	XP_005250082.1:p.Ile4436Phe
XM_005250026.3:c.13303A>T	XP_005250083.1:p.Ile4435Phe
XM_005250027.4:c.13303A>T	XP_005250084.1:p.Ile4435Phe
XM_005250028.4:c.13306A>T	XP_005250085.1:p.Ile4436Phe
XM_005250031.4:c.13141A>T	XP_005250088.1:p.Ile4381Phe
XM_006716077.3:c.13303A>T	XP_006716140.1:p.Ile4435Phe
XM_006716078.3:c.13234A>T	XP_006716141.1:p.Ile4412Phe
XM_006716079.3:c.13138A>T	XP_006716142.1:p.Ile4380Phe
XM_011516450.2:c.13258A>T	XP_011514752.1:p.Ile4420Phe
XM_011516451.2:c.13186A>T	XP_011514753.1:p.Ile4396Phe
XM_011516452.2:c.13153A>T	XP_011514754.1:p.Ile4385Phe
XM_011516453.2:c.13069A>T	XP_011514755.1:p.Ile4357Phe
XM_011516454.2:c.12391A>T	XP_011514756.1:p.Ile4131Phe
XM_011516456.2:c.13258A>T	XP_011514758.1:p.Ile4420Phe
XM_017012480.1:c.13306A>T	XP_016867969.1:p.Ile4436Phe
XM_017012481.1:c.13303A>T	XP_016867970.1:p.Ile4435Phe
XM_017012482.1:c.13303A>T	XP_016867971.1:p.Ile4435Phe
XM_017012483.1:c.13303A>T	XP_016867972.1:p.Ile4435Phe
XM_017012484.1:c.13273A>T	XP_016867973.1:p.Ile4425Phe
XM_017012485.1:c.13255A>T	XP_016867974.1:p.Ile4419Phe
XM_017012486.1:c.13231A>T	XP_016867975.1:p.Ile4411Phe
XM_017012487.1:c.13159A>T	XP_016867976.1:p.Ile4387Phe
XM_017012488.1:c.13123A>T	XP_016867977.1:p.Ile4375Phe
XM_017012489.1:c.9976A>T	XP_016867978.1:p.Ile3326Phe
XM_017012490.2:c.9580A>T	XP_016867979.1:p.Ile3194Phe
XM_024446852.1:c.13303A>T	XP_024302620.1:p.Ile4435Phe
XM_024446853.1:c.13231A>T	XP_024302621.1:p.Ile4411Phe
NM_170606.3:c.13090A>T MANE Select	NP_733751.2:p.Ile4364Phe