Canonical Allele Identifier: CA370091815

Gene: KMT2C

Linked Data

• COSMIC: COSM1131648 ; COSM1131649
• MyVariant Identifiers: chr7:g.151845758C>A (hg19) ; chr7:g.152148673C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148673C>A , CM000669.2:g.152148673C>A	GRCh38
NC_000007.13:g.151845758C>A , CM000669.1:g.151845758C>A	GRCh37
NC_000007.12:g.151476691C>A	NCBI36
NG_033948.1:g.292333G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682040.1:c.1442G>T
ENST00000682116.1:n.2386G>T
ENST00000682283.1:c.13425G>T	ENSP00000507485.1:p.Arg4475Ser
ENST00000682629.1:n.2554G>T
ENST00000683120.1:n.8446G>T
ENST00000683178.1:c.3827G>T
ENST00000683200.1:c.10764G>T	ENSP00000508052.1:p.Arg3588Ser
ENST00000683337.1:n.4884G>T
ENST00000683502.1:c.3899G>T
ENST00000683621.1:n.2020G>T
ENST00000683640.1:n.1970G>T
ENST00000684069.1:c.1671G>T	ENSP00000507650.1:p.Arg557Ser
ENST00000684261.1:c.8151G>T	ENSP00000508097.1:p.Arg2717Ser
ENST00000684391.1:n.12G>T
ENST00000684649.1:c.3899G>T
ENST00000262189.11:c.13254G>T MANE Select	ENSP00000262189.6:p.Arg4418Ser
ENST00000360104.8:c.9041G>T
ENST00000418061.2:c.3896G>T
ENST00000424877.6:c.3830G>T
ENST00000679393.1:n.7965G>T
ENST00000679560.1:c.8154G>T	ENSP00000505094.1:p.Arg2718Ser
ENST00000679882.1:c.12819G>T	ENSP00000506154.1:p.Arg4273Ser
ENST00000680029.1:c.3831G>T
ENST00000680877.1:c.8154G>T	ENSP00000505724.1:p.Arg2718Ser
ENST00000681923.1:n.2269G>T
ENST00000262189.10:c.13254G>T	ENSP00000262189.6:p.Arg4418Ser
ENST00000355193.6:c.13254G>T	ENSP00000347325.3:p.Arg4418Ser
ENST00000360104.7:c.5935G>T
ENST00000424877.5:c.3105G>T	ENSP00000410411.1:p.Arg1035Ser
ENST00000473186.5:n.11136G>T
ENST00000558084.5:c.*10774G>T	ENSP00000453752.1:n.*10774G>T
NM_170606.2:c.13254G>T	NP_733751.2:p.Arg4418Ser
XM_005250025.3:c.13470G>T	XP_005250082.1:p.Arg4490Ser
XM_005250026.2:c.13467G>T	XP_005250083.1:p.Arg4489Ser
XM_005250027.3:c.13467G>T	XP_005250084.1:p.Arg4489Ser
XM_005250028.3:c.13470G>T	XP_005250085.1:p.Arg4490Ser
XM_005250031.3:c.13305G>T	XP_005250088.1:p.Arg4435Ser
XM_006716077.2:c.13467G>T	XP_006716140.1:p.Arg4489Ser
XM_006716078.2:c.13398G>T	XP_006716141.1:p.Arg4466Ser
XM_006716079.2:c.13302G>T	XP_006716142.1:p.Arg4434Ser
XM_011516450.1:c.13422G>T	XP_011514752.1:p.Arg4474Ser
XM_011516451.1:c.13350G>T	XP_011514753.1:p.Arg4450Ser
XM_011516452.1:c.13317G>T	XP_011514754.1:p.Arg4439Ser
XM_011516453.1:c.13233G>T	XP_011514755.1:p.Arg4411Ser
XM_011516454.1:c.12555G>T	XP_011514756.1:p.Arg4185Ser
XM_011516455.1:c.11016G>T	XP_011514757.1:p.Arg3672Ser
XM_011516456.1:c.13422G>T	XP_011514758.1:p.Arg4474Ser
XM_005250025.4:c.13470G>T	XP_005250082.1:p.Arg4490Ser
XM_005250026.3:c.13467G>T	XP_005250083.1:p.Arg4489Ser
XM_005250027.4:c.13467G>T	XP_005250084.1:p.Arg4489Ser
XM_005250028.4:c.13470G>T	XP_005250085.1:p.Arg4490Ser
XM_005250031.4:c.13305G>T	XP_005250088.1:p.Arg4435Ser
XM_006716077.3:c.13467G>T	XP_006716140.1:p.Arg4489Ser
XM_006716078.3:c.13398G>T	XP_006716141.1:p.Arg4466Ser
XM_006716079.3:c.13302G>T	XP_006716142.1:p.Arg4434Ser
XM_011516450.2:c.13422G>T	XP_011514752.1:p.Arg4474Ser
XM_011516451.2:c.13350G>T	XP_011514753.1:p.Arg4450Ser
XM_011516452.2:c.13317G>T	XP_011514754.1:p.Arg4439Ser
XM_011516453.2:c.13233G>T	XP_011514755.1:p.Arg4411Ser
XM_011516454.2:c.12555G>T	XP_011514756.1:p.Arg4185Ser
XM_011516456.2:c.13422G>T	XP_011514758.1:p.Arg4474Ser
XM_017012480.1:c.13470G>T	XP_016867969.1:p.Arg4490Ser
XM_017012481.1:c.13467G>T	XP_016867970.1:p.Arg4489Ser
XM_017012482.1:c.13467G>T	XP_016867971.1:p.Arg4489Ser
XM_017012483.1:c.13467G>T	XP_016867972.1:p.Arg4489Ser
XM_017012484.1:c.13437G>T	XP_016867973.1:p.Arg4479Ser
XM_017012485.1:c.13419G>T	XP_016867974.1:p.Arg4473Ser
XM_017012486.1:c.13395G>T	XP_016867975.1:p.Arg4465Ser
XM_017012487.1:c.13323G>T	XP_016867976.1:p.Arg4441Ser
XM_017012488.1:c.13287G>T	XP_016867977.1:p.Arg4429Ser
XM_017012489.1:c.10140G>T	XP_016867978.1:p.Arg3380Ser
XM_017012490.2:c.9744G>T	XP_016867979.1:p.Arg3248Ser
XM_024446852.1:c.13467G>T	XP_024302620.1:p.Arg4489Ser
XM_024446853.1:c.13395G>T	XP_024302621.1:p.Arg4465Ser
NM_170606.3:c.13254G>T MANE Select	NP_733751.2:p.Arg4418Ser