Canonical Allele Identifier: CA370093076

Gene: KMT2C

Linked Data

• dbSNP Id: rs2129095544
• COSMIC: COSM4943274
• MyVariant Identifiers: chr7:g.151845880C>T (hg19) ; chr7:g.152148795C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148795C>T , CM000669.2:g.152148795C>T	GRCh38
NC_000007.13:g.151845880C>T , CM000669.1:g.151845880C>T	GRCh37
NC_000007.12:g.151476813C>T	NCBI36
NG_033948.1:g.292211G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1320G>A
ENST00000682116.1:n.2264G>A
ENST00000682283.1:c.13303G>A	ENSP00000507485.1:p.Glu4435Lys
ENST00000682629.1:n.2432G>A
ENST00000683120.1:n.8324G>A
ENST00000683178.1:c.3705G>A
ENST00000683200.1:c.10642G>A	ENSP00000508052.1:p.Glu3548Lys
ENST00000683337.1:n.4762G>A
ENST00000683502.1:c.3777G>A
ENST00000683621.1:n.1898G>A
ENST00000683640.1:n.1848G>A
ENST00000684069.1:c.1549G>A	ENSP00000507650.1:p.Glu517Lys
ENST00000684261.1:c.8029G>A	ENSP00000508097.1:p.Glu2677Lys
ENST00000684649.1:c.3777G>A
ENST00000262189.11:c.13132G>A MANE Select	ENSP00000262189.6:p.Glu4378Lys
ENST00000360104.8:c.8919G>A
ENST00000418061.2:c.3774G>A
ENST00000424877.6:c.3708G>A
ENST00000679393.1:n.7843G>A
ENST00000679560.1:c.8032G>A	ENSP00000505094.1:p.Glu2678Lys
ENST00000679882.1:c.12697G>A	ENSP00000506154.1:p.Glu4233Lys
ENST00000680029.1:c.3709G>A
ENST00000680877.1:c.8032G>A	ENSP00000505724.1:p.Glu2678Lys
ENST00000681923.1:n.2147G>A
ENST00000262189.10:c.13132G>A	ENSP00000262189.6:p.Glu4378Lys
ENST00000355193.6:c.13132G>A	ENSP00000347325.3:p.Glu4378Lys
ENST00000360104.7:c.5813G>A
ENST00000424877.5:c.2983G>A	ENSP00000410411.1:p.Glu995Lys
ENST00000473186.5:n.11014G>A
ENST00000558084.5:c.*10652G>A	ENSP00000453752.1:n.*10652G>A
NM_170606.2:c.13132G>A	NP_733751.2:p.Glu4378Lys
XM_005250025.3:c.13348G>A	XP_005250082.1:p.Glu4450Lys
XM_005250026.2:c.13345G>A	XP_005250083.1:p.Glu4449Lys
XM_005250027.3:c.13345G>A	XP_005250084.1:p.Glu4449Lys
XM_005250028.3:c.13348G>A	XP_005250085.1:p.Glu4450Lys
XM_005250031.3:c.13183G>A	XP_005250088.1:p.Glu4395Lys
XM_006716077.2:c.13345G>A	XP_006716140.1:p.Glu4449Lys
XM_006716078.2:c.13276G>A	XP_006716141.1:p.Glu4426Lys
XM_006716079.2:c.13180G>A	XP_006716142.1:p.Glu4394Lys
XM_011516450.1:c.13300G>A	XP_011514752.1:p.Glu4434Lys
XM_011516451.1:c.13228G>A	XP_011514753.1:p.Glu4410Lys
XM_011516452.1:c.13195G>A	XP_011514754.1:p.Glu4399Lys
XM_011516453.1:c.13111G>A	XP_011514755.1:p.Glu4371Lys
XM_011516454.1:c.12433G>A	XP_011514756.1:p.Glu4145Lys
XM_011516455.1:c.10894G>A	XP_011514757.1:p.Glu3632Lys
XM_011516456.1:c.13300G>A	XP_011514758.1:p.Glu4434Lys
XM_005250025.4:c.13348G>A	XP_005250082.1:p.Glu4450Lys
XM_005250026.3:c.13345G>A	XP_005250083.1:p.Glu4449Lys
XM_005250027.4:c.13345G>A	XP_005250084.1:p.Glu4449Lys
XM_005250028.4:c.13348G>A	XP_005250085.1:p.Glu4450Lys
XM_005250031.4:c.13183G>A	XP_005250088.1:p.Glu4395Lys
XM_006716077.3:c.13345G>A	XP_006716140.1:p.Glu4449Lys
XM_006716078.3:c.13276G>A	XP_006716141.1:p.Glu4426Lys
XM_006716079.3:c.13180G>A	XP_006716142.1:p.Glu4394Lys
XM_011516450.2:c.13300G>A	XP_011514752.1:p.Glu4434Lys
XM_011516451.2:c.13228G>A	XP_011514753.1:p.Glu4410Lys
XM_011516452.2:c.13195G>A	XP_011514754.1:p.Glu4399Lys
XM_011516453.2:c.13111G>A	XP_011514755.1:p.Glu4371Lys
XM_011516454.2:c.12433G>A	XP_011514756.1:p.Glu4145Lys
XM_011516456.2:c.13300G>A	XP_011514758.1:p.Glu4434Lys
XM_017012480.1:c.13348G>A	XP_016867969.1:p.Glu4450Lys
XM_017012481.1:c.13345G>A	XP_016867970.1:p.Glu4449Lys
XM_017012482.1:c.13345G>A	XP_016867971.1:p.Glu4449Lys
XM_017012483.1:c.13345G>A	XP_016867972.1:p.Glu4449Lys
XM_017012484.1:c.13315G>A	XP_016867973.1:p.Glu4439Lys
XM_017012485.1:c.13297G>A	XP_016867974.1:p.Glu4433Lys
XM_017012486.1:c.13273G>A	XP_016867975.1:p.Glu4425Lys
XM_017012487.1:c.13201G>A	XP_016867976.1:p.Glu4401Lys
XM_017012488.1:c.13165G>A	XP_016867977.1:p.Glu4389Lys
XM_017012489.1:c.10018G>A	XP_016867978.1:p.Glu3340Lys
XM_017012490.2:c.9622G>A	XP_016867979.1:p.Glu3208Lys
XM_024446852.1:c.13345G>A	XP_024302620.1:p.Glu4449Lys
XM_024446853.1:c.13273G>A	XP_024302621.1:p.Glu4425Lys
NM_170606.3:c.13132G>A MANE Select	NP_733751.2:p.Glu4378Lys