Canonical Allele Identifier: CA370093179

Gene: KMT2C

Linked Data

• gnomAD v4: 7-152148825-T-C
• MyVariant Identifiers: chr7:g.151845910T>C (hg19) ; chr7:g.152148825T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148825T>C , CM000669.2:g.152148825T>C	GRCh38
NC_000007.13:g.151845910T>C , CM000669.1:g.151845910T>C	GRCh37
NC_000007.12:g.151476843T>C	NCBI36
NG_033948.1:g.292181A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1290A>G
ENST00000682116.1:n.2234A>G
ENST00000682283.1:c.13273A>G	ENSP00000507485.1:p.Lys4425Glu
ENST00000682629.1:n.2402A>G
ENST00000683120.1:n.8294A>G
ENST00000683178.1:c.3675A>G
ENST00000683200.1:c.10612A>G	ENSP00000508052.1:p.Lys3538Glu
ENST00000683337.1:n.4732A>G
ENST00000683502.1:c.3747A>G
ENST00000683621.1:n.1868A>G
ENST00000683640.1:n.1818A>G
ENST00000684069.1:c.1519A>G	ENSP00000507650.1:p.Lys507Glu
ENST00000684261.1:c.7999A>G	ENSP00000508097.1:p.Lys2667Glu
ENST00000684649.1:c.3747A>G
ENST00000262189.11:c.13102A>G MANE Select	ENSP00000262189.6:p.Lys4368Glu
ENST00000360104.8:c.8889A>G
ENST00000418061.2:c.3744A>G
ENST00000424877.6:c.3678A>G
ENST00000679393.1:n.7813A>G
ENST00000679560.1:c.8002A>G	ENSP00000505094.1:p.Lys2668Glu
ENST00000679882.1:c.12667A>G	ENSP00000506154.1:p.Lys4223Glu
ENST00000680029.1:c.3679A>G
ENST00000680877.1:c.8002A>G	ENSP00000505724.1:p.Lys2668Glu
ENST00000681923.1:n.2117A>G
ENST00000262189.10:c.13102A>G	ENSP00000262189.6:p.Lys4368Glu
ENST00000355193.6:c.13102A>G	ENSP00000347325.3:p.Lys4368Glu
ENST00000360104.7:c.5783A>G
ENST00000424877.5:c.2953A>G	ENSP00000410411.1:p.Lys985Glu
ENST00000473186.5:n.10984A>G
ENST00000558084.5:c.*10622A>G	ENSP00000453752.1:n.*10622A>G
NM_170606.2:c.13102A>G	NP_733751.2:p.Lys4368Glu
XM_005250025.3:c.13318A>G	XP_005250082.1:p.Lys4440Glu
XM_005250026.2:c.13315A>G	XP_005250083.1:p.Lys4439Glu
XM_005250027.3:c.13315A>G	XP_005250084.1:p.Lys4439Glu
XM_005250028.3:c.13318A>G	XP_005250085.1:p.Lys4440Glu
XM_005250031.3:c.13153A>G	XP_005250088.1:p.Lys4385Glu
XM_006716077.2:c.13315A>G	XP_006716140.1:p.Lys4439Glu
XM_006716078.2:c.13246A>G	XP_006716141.1:p.Lys4416Glu
XM_006716079.2:c.13150A>G	XP_006716142.1:p.Lys4384Glu
XM_011516450.1:c.13270A>G	XP_011514752.1:p.Lys4424Glu
XM_011516451.1:c.13198A>G	XP_011514753.1:p.Lys4400Glu
XM_011516452.1:c.13165A>G	XP_011514754.1:p.Lys4389Glu
XM_011516453.1:c.13081A>G	XP_011514755.1:p.Lys4361Glu
XM_011516454.1:c.12403A>G	XP_011514756.1:p.Lys4135Glu
XM_011516455.1:c.10864A>G	XP_011514757.1:p.Lys3622Glu
XM_011516456.1:c.13270A>G	XP_011514758.1:p.Lys4424Glu
XM_005250025.4:c.13318A>G	XP_005250082.1:p.Lys4440Glu
XM_005250026.3:c.13315A>G	XP_005250083.1:p.Lys4439Glu
XM_005250027.4:c.13315A>G	XP_005250084.1:p.Lys4439Glu
XM_005250028.4:c.13318A>G	XP_005250085.1:p.Lys4440Glu
XM_005250031.4:c.13153A>G	XP_005250088.1:p.Lys4385Glu
XM_006716077.3:c.13315A>G	XP_006716140.1:p.Lys4439Glu
XM_006716078.3:c.13246A>G	XP_006716141.1:p.Lys4416Glu
XM_006716079.3:c.13150A>G	XP_006716142.1:p.Lys4384Glu
XM_011516450.2:c.13270A>G	XP_011514752.1:p.Lys4424Glu
XM_011516451.2:c.13198A>G	XP_011514753.1:p.Lys4400Glu
XM_011516452.2:c.13165A>G	XP_011514754.1:p.Lys4389Glu
XM_011516453.2:c.13081A>G	XP_011514755.1:p.Lys4361Glu
XM_011516454.2:c.12403A>G	XP_011514756.1:p.Lys4135Glu
XM_011516456.2:c.13270A>G	XP_011514758.1:p.Lys4424Glu
XM_017012480.1:c.13318A>G	XP_016867969.1:p.Lys4440Glu
XM_017012481.1:c.13315A>G	XP_016867970.1:p.Lys4439Glu
XM_017012482.1:c.13315A>G	XP_016867971.1:p.Lys4439Glu
XM_017012483.1:c.13315A>G	XP_016867972.1:p.Lys4439Glu
XM_017012484.1:c.13285A>G	XP_016867973.1:p.Lys4429Glu
XM_017012485.1:c.13267A>G	XP_016867974.1:p.Lys4423Glu
XM_017012486.1:c.13243A>G	XP_016867975.1:p.Lys4415Glu
XM_017012487.1:c.13171A>G	XP_016867976.1:p.Lys4391Glu
XM_017012488.1:c.13135A>G	XP_016867977.1:p.Lys4379Glu
XM_017012489.1:c.9988A>G	XP_016867978.1:p.Lys3330Glu
XM_017012490.2:c.9592A>G	XP_016867979.1:p.Lys3198Glu
XM_024446852.1:c.13315A>G	XP_024302620.1:p.Lys4439Glu
XM_024446853.1:c.13243A>G	XP_024302621.1:p.Lys4415Glu
NM_170606.3:c.13102A>G MANE Select	NP_733751.2:p.Lys4368Glu