Canonical Allele Identifier: CA370093222

Gene: KMT2C

Linked Data

• gnomAD v4: 7-152148839-T-C
• MyVariant Identifiers: chr7:g.151845924T>C (hg19) ; chr7:g.152148839T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148839T>C , CM000669.2:g.152148839T>C	GRCh38
NC_000007.13:g.151845924T>C , CM000669.1:g.151845924T>C	GRCh37
NC_000007.12:g.151476857T>C	NCBI36
NG_033948.1:g.292167A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1276A>G
ENST00000682116.1:n.2220A>G
ENST00000682283.1:c.13259A>G	ENSP00000507485.1:p.His4420Arg
ENST00000682629.1:n.2388A>G
ENST00000683120.1:n.8280A>G
ENST00000683178.1:c.3661A>G
ENST00000683200.1:c.10598A>G	ENSP00000508052.1:p.His3533Arg
ENST00000683337.1:n.4718A>G
ENST00000683502.1:c.3733A>G
ENST00000683621.1:n.1854A>G
ENST00000683640.1:n.1804A>G
ENST00000684069.1:c.1505A>G	ENSP00000507650.1:p.His502Arg
ENST00000684261.1:c.7985A>G	ENSP00000508097.1:p.His2662Arg
ENST00000684649.1:c.3733A>G
ENST00000262189.11:c.13088A>G MANE Select	ENSP00000262189.6:p.His4363Arg
ENST00000360104.8:c.8875A>G
ENST00000418061.2:c.3730A>G
ENST00000424877.6:c.3664A>G
ENST00000679393.1:n.7799A>G
ENST00000679560.1:c.7988A>G	ENSP00000505094.1:p.His2663Arg
ENST00000679882.1:c.12653A>G	ENSP00000506154.1:p.His4218Arg
ENST00000680029.1:c.3665A>G
ENST00000680877.1:c.7988A>G	ENSP00000505724.1:p.His2663Arg
ENST00000681923.1:n.2103A>G
ENST00000262189.10:c.13088A>G	ENSP00000262189.6:p.His4363Arg
ENST00000355193.6:c.13088A>G	ENSP00000347325.3:p.His4363Arg
ENST00000360104.7:c.5769A>G
ENST00000424877.5:c.2939A>G	ENSP00000410411.1:p.His980Arg
ENST00000473186.5:n.10970A>G
ENST00000558084.5:c.*10608A>G	ENSP00000453752.1:n.*10608A>G
NM_170606.2:c.13088A>G	NP_733751.2:p.His4363Arg
XM_005250025.3:c.13304A>G	XP_005250082.1:p.His4435Arg
XM_005250026.2:c.13301A>G	XP_005250083.1:p.His4434Arg
XM_005250027.3:c.13301A>G	XP_005250084.1:p.His4434Arg
XM_005250028.3:c.13304A>G	XP_005250085.1:p.His4435Arg
XM_005250031.3:c.13139A>G	XP_005250088.1:p.His4380Arg
XM_006716077.2:c.13301A>G	XP_006716140.1:p.His4434Arg
XM_006716078.2:c.13232A>G	XP_006716141.1:p.His4411Arg
XM_006716079.2:c.13136A>G	XP_006716142.1:p.His4379Arg
XM_011516450.1:c.13256A>G	XP_011514752.1:p.His4419Arg
XM_011516451.1:c.13184A>G	XP_011514753.1:p.His4395Arg
XM_011516452.1:c.13151A>G	XP_011514754.1:p.His4384Arg
XM_011516453.1:c.13067A>G	XP_011514755.1:p.His4356Arg
XM_011516454.1:c.12389A>G	XP_011514756.1:p.His4130Arg
XM_011516455.1:c.10850A>G	XP_011514757.1:p.His3617Arg
XM_011516456.1:c.13256A>G	XP_011514758.1:p.His4419Arg
XM_005250025.4:c.13304A>G	XP_005250082.1:p.His4435Arg
XM_005250026.3:c.13301A>G	XP_005250083.1:p.His4434Arg
XM_005250027.4:c.13301A>G	XP_005250084.1:p.His4434Arg
XM_005250028.4:c.13304A>G	XP_005250085.1:p.His4435Arg
XM_005250031.4:c.13139A>G	XP_005250088.1:p.His4380Arg
XM_006716077.3:c.13301A>G	XP_006716140.1:p.His4434Arg
XM_006716078.3:c.13232A>G	XP_006716141.1:p.His4411Arg
XM_006716079.3:c.13136A>G	XP_006716142.1:p.His4379Arg
XM_011516450.2:c.13256A>G	XP_011514752.1:p.His4419Arg
XM_011516451.2:c.13184A>G	XP_011514753.1:p.His4395Arg
XM_011516452.2:c.13151A>G	XP_011514754.1:p.His4384Arg
XM_011516453.2:c.13067A>G	XP_011514755.1:p.His4356Arg
XM_011516454.2:c.12389A>G	XP_011514756.1:p.His4130Arg
XM_011516456.2:c.13256A>G	XP_011514758.1:p.His4419Arg
XM_017012480.1:c.13304A>G	XP_016867969.1:p.His4435Arg
XM_017012481.1:c.13301A>G	XP_016867970.1:p.His4434Arg
XM_017012482.1:c.13301A>G	XP_016867971.1:p.His4434Arg
XM_017012483.1:c.13301A>G	XP_016867972.1:p.His4434Arg
XM_017012484.1:c.13271A>G	XP_016867973.1:p.His4424Arg
XM_017012485.1:c.13253A>G	XP_016867974.1:p.His4418Arg
XM_017012486.1:c.13229A>G	XP_016867975.1:p.His4410Arg
XM_017012487.1:c.13157A>G	XP_016867976.1:p.His4386Arg
XM_017012488.1:c.13121A>G	XP_016867977.1:p.His4374Arg
XM_017012489.1:c.9974A>G	XP_016867978.1:p.His3325Arg
XM_017012490.2:c.9578A>G	XP_016867979.1:p.His3193Arg
XM_024446852.1:c.13301A>G	XP_024302620.1:p.His4434Arg
XM_024446853.1:c.13229A>G	XP_024302621.1:p.His4410Arg
NM_170606.3:c.13088A>G MANE Select	NP_733751.2:p.His4363Arg