Canonical Allele Identifier: CA169220866

Gene: KMT2C

Linked Data

• dbSNP Id: rs996285090
• gnomAD v3: 7-152148820-C-G
• gnomAD v4: 7-152148820-C-G
• MyVariant Identifiers: chr7:g.151845905C>G (hg19) ; chr7:g.152148820C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148820C>G , CM000669.2:g.152148820C>G	GRCh38
NC_000007.13:g.151845905C>G , CM000669.1:g.151845905C>G	GRCh37
NC_000007.12:g.151476838C>G	NCBI36
NG_033948.1:g.292186G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1295G>C
ENST00000682116.1:n.2239G>C
ENST00000682283.1:c.13278G>C	ENSP00000507485.1:p.Gly4426=
ENST00000682629.1:n.2407G>C
ENST00000683120.1:n.8299G>C
ENST00000683178.1:c.3680G>C
ENST00000683200.1:c.10617G>C	ENSP00000508052.1:p.Gly3539=
ENST00000683337.1:n.4737G>C
ENST00000683502.1:c.3752G>C
ENST00000683621.1:n.1873G>C
ENST00000683640.1:n.1823G>C
ENST00000684069.1:c.1524G>C	ENSP00000507650.1:p.Gly508=
ENST00000684261.1:c.8004G>C	ENSP00000508097.1:p.Gly2668=
ENST00000684649.1:c.3752G>C
ENST00000262189.11:c.13107G>C MANE Select	ENSP00000262189.6:p.Gly4369=
ENST00000360104.8:c.8894G>C
ENST00000418061.2:c.3749G>C
ENST00000424877.6:c.3683G>C
ENST00000679393.1:n.7818G>C
ENST00000679560.1:c.8007G>C	ENSP00000505094.1:p.Gly2669=
ENST00000679882.1:c.12672G>C	ENSP00000506154.1:p.Gly4224=
ENST00000680029.1:c.3684G>C
ENST00000680877.1:c.8007G>C	ENSP00000505724.1:p.Gly2669=
ENST00000681923.1:n.2122G>C
ENST00000262189.10:c.13107G>C	ENSP00000262189.6:p.Gly4369=
ENST00000355193.6:c.13107G>C	ENSP00000347325.3:p.Gly4369=
ENST00000360104.7:c.5788G>C
ENST00000424877.5:c.2958G>C	ENSP00000410411.1:p.Gly986=
ENST00000473186.5:n.10989G>C
ENST00000558084.5:c.*10627G>C	ENSP00000453752.1:n.*10627G>C
NM_170606.2:c.13107G>C	NP_733751.2:p.Gly4369=
XM_005250025.3:c.13323G>C	XP_005250082.1:p.Gly4441=
XM_005250026.2:c.13320G>C	XP_005250083.1:p.Gly4440=
XM_005250027.3:c.13320G>C	XP_005250084.1:p.Gly4440=
XM_005250028.3:c.13323G>C	XP_005250085.1:p.Gly4441=
XM_005250031.3:c.13158G>C	XP_005250088.1:p.Gly4386=
XM_006716077.2:c.13320G>C	XP_006716140.1:p.Gly4440=
XM_006716078.2:c.13251G>C	XP_006716141.1:p.Gly4417=
XM_006716079.2:c.13155G>C	XP_006716142.1:p.Gly4385=
XM_011516450.1:c.13275G>C	XP_011514752.1:p.Gly4425=
XM_011516451.1:c.13203G>C	XP_011514753.1:p.Gly4401=
XM_011516452.1:c.13170G>C	XP_011514754.1:p.Gly4390=
XM_011516453.1:c.13086G>C	XP_011514755.1:p.Gly4362=
XM_011516454.1:c.12408G>C	XP_011514756.1:p.Gly4136=
XM_011516455.1:c.10869G>C	XP_011514757.1:p.Gly3623=
XM_011516456.1:c.13275G>C	XP_011514758.1:p.Gly4425=
XM_005250025.4:c.13323G>C	XP_005250082.1:p.Gly4441=
XM_005250026.3:c.13320G>C	XP_005250083.1:p.Gly4440=
XM_005250027.4:c.13320G>C	XP_005250084.1:p.Gly4440=
XM_005250028.4:c.13323G>C	XP_005250085.1:p.Gly4441=
XM_005250031.4:c.13158G>C	XP_005250088.1:p.Gly4386=
XM_006716077.3:c.13320G>C	XP_006716140.1:p.Gly4440=
XM_006716078.3:c.13251G>C	XP_006716141.1:p.Gly4417=
XM_006716079.3:c.13155G>C	XP_006716142.1:p.Gly4385=
XM_011516450.2:c.13275G>C	XP_011514752.1:p.Gly4425=
XM_011516451.2:c.13203G>C	XP_011514753.1:p.Gly4401=
XM_011516452.2:c.13170G>C	XP_011514754.1:p.Gly4390=
XM_011516453.2:c.13086G>C	XP_011514755.1:p.Gly4362=
XM_011516454.2:c.12408G>C	XP_011514756.1:p.Gly4136=
XM_011516456.2:c.13275G>C	XP_011514758.1:p.Gly4425=
XM_017012480.1:c.13323G>C	XP_016867969.1:p.Gly4441=
XM_017012481.1:c.13320G>C	XP_016867970.1:p.Gly4440=
XM_017012482.1:c.13320G>C	XP_016867971.1:p.Gly4440=
XM_017012483.1:c.13320G>C	XP_016867972.1:p.Gly4440=
XM_017012484.1:c.13290G>C	XP_016867973.1:p.Gly4430=
XM_017012485.1:c.13272G>C	XP_016867974.1:p.Gly4424=
XM_017012486.1:c.13248G>C	XP_016867975.1:p.Gly4416=
XM_017012487.1:c.13176G>C	XP_016867976.1:p.Gly4392=
XM_017012488.1:c.13140G>C	XP_016867977.1:p.Gly4380=
XM_017012489.1:c.9993G>C	XP_016867978.1:p.Gly3331=
XM_017012490.2:c.9597G>C	XP_016867979.1:p.Gly3199=
XM_024446852.1:c.13320G>C	XP_024302620.1:p.Gly4440=
XM_024446853.1:c.13248G>C	XP_024302621.1:p.Gly4416=
NM_170606.3:c.13107G>C MANE Select	NP_733751.2:p.Gly4369=