Canonical Allele Identifier: CA835344451

Gene: KMT2C

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152205024T>G , CM000669.2:g.152205024T>G	GRCh38
NC_000007.13:g.151902109T>G , CM000669.1:g.151902109T>G	GRCh37
NC_000007.12:g.151533042T>G	NCBI36
NG_033948.1:g.235982A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682176.1:c.638+82A>C
ENST00000682283.1:c.3961+82A>C	ENSP00000507485.1:n.3961+82A>C
ENST00000683200.1:c.1309+82A>C	ENSP00000508052.1:n.1309+82A>C
ENST00000683254.1:n.1866A>C
ENST00000683490.1:c.*65A>C	ENSP00000507385.1:n.*65A>C
ENST00000684550.1:c.3961+82A>C	ENSP00000507135.1:n.3961+82A>C
ENST00000684623.1:n.2921A>C
ENST00000262189.11:c.3961+82A>C MANE Select	ENSP00000262189.6:n.3961+82A>C
ENST00000489110.2:n.1468+82A>C
ENST00000679645.1:c.*54+82A>C	ENSP00000505745.1:n.*54+82A>C
ENST00000679882.1:c.3841+82A>C	ENSP00000506154.1:n.3841+82A>C
ENST00000680969.1:c.1309+82A>C	ENSP00000505951.1:n.1309+82A>C
ENST00000681033.1:c.2659+82A>C	ENSP00000505058.1:n.2659+82A>C
ENST00000681838.1:c.1323+82A>C	ENSP00000505661.1:n.1323+82A>C
ENST00000262189.10:c.3961+82A>C	ENSP00000262189.6:n.3961+82A>C
ENST00000355193.6:c.3961+82A>C	ENSP00000347325.3:n.3961+82A>C
ENST00000473186.5:n.1672+82A>C
ENST00000558084.5:c.*1481+82A>C	ENSP00000453752.1:n.*1481+82A>C
NM_170606.2:c.3961+82A>C	NP_733751.2:n.3961+82A>C
XM_005250025.3:c.3964+82A>C	XP_005250082.1:n.3964+82A>C
XM_005250026.2:c.3961+82A>C	XP_005250083.1:n.3961+82A>C
XM_005250027.3:c.3964+82A>C	XP_005250084.1:n.3964+82A>C
XM_005250028.3:c.3964+82A>C	XP_005250085.1:n.3964+82A>C
XM_005250031.3:c.3964+82A>C	XP_005250088.1:n.3964+82A>C
XM_006716077.2:c.3964+82A>C	XP_006716140.1:n.3964+82A>C
XM_006716078.2:c.3964+82A>C	XP_006716141.1:n.3964+82A>C
XM_006716079.2:c.3964+82A>C	XP_006716142.1:n.3964+82A>C
XM_011516450.1:c.3964+82A>C	XP_011514752.1:n.3964+82A>C
XM_011516451.1:c.3844+82A>C	XP_011514753.1:n.3844+82A>C
XM_011516452.1:c.3964+82A>C	XP_011514754.1:n.3964+82A>C
XM_011516453.1:c.3964+82A>C	XP_011514755.1:n.3964+82A>C
XM_011516454.1:c.3049+82A>C	XP_011514756.1:n.3049+82A>C
XM_011516455.1:c.1510+82A>C	XP_011514757.1:n.1510+82A>C
XM_011516456.1:c.3964+82A>C	XP_011514758.1:n.3964+82A>C
XR_428183.2:n.4172+82A>C
XM_005250025.4:c.3964+82A>C	XP_005250082.1:n.3964+82A>C
XM_005250026.3:c.3961+82A>C	XP_005250083.1:n.3961+82A>C
XM_005250027.4:c.3964+82A>C	XP_005250084.1:n.3964+82A>C
XM_005250028.4:c.3964+82A>C	XP_005250085.1:n.3964+82A>C
XM_005250031.4:c.3964+82A>C	XP_005250088.1:n.3964+82A>C
XM_006716077.3:c.3964+82A>C	XP_006716140.1:n.3964+82A>C
XM_006716078.3:c.3964+82A>C	XP_006716141.1:n.3964+82A>C
XM_006716079.3:c.3964+82A>C	XP_006716142.1:n.3964+82A>C
XM_011516450.2:c.3964+82A>C	XP_011514752.1:n.3964+82A>C
XM_011516451.2:c.3844+82A>C	XP_011514753.1:n.3844+82A>C
XM_011516452.2:c.3964+82A>C	XP_011514754.1:n.3964+82A>C
XM_011516453.2:c.3964+82A>C	XP_011514755.1:n.3964+82A>C
XM_011516454.2:c.3049+82A>C	XP_011514756.1:n.3049+82A>C
XM_011516456.2:c.3964+82A>C	XP_011514758.1:n.3964+82A>C
XM_017012480.1:c.3964+82A>C	XP_016867969.1:n.3964+82A>C
XM_017012481.1:c.3961+82A>C	XP_016867970.1:n.3961+82A>C
XM_017012482.1:c.3964+82A>C	XP_016867971.1:n.3964+82A>C
XM_017012483.1:c.3964+82A>C	XP_016867972.1:n.3964+82A>C
XM_017012484.1:c.3931+82A>C	XP_016867973.1:n.3931+82A>C
XM_017012485.1:c.3961+82A>C	XP_016867974.1:n.3961+82A>C
XM_017012486.1:c.3964+82A>C	XP_016867975.1:n.3964+82A>C
XM_017012487.1:c.3817+82A>C	XP_016867976.1:n.3817+82A>C
XM_017012488.1:c.3964+82A>C	XP_016867977.1:n.3964+82A>C
XM_017012489.1:c.634+82A>C	XP_016867978.1:n.634+82A>C
XM_017012490.2:c.238+82A>C	XP_016867979.1:n.238+82A>C
XM_024446852.1:c.3961+82A>C	XP_024302620.1:n.3961+82A>C
XM_024446853.1:c.3964+82A>C	XP_024302621.1:n.3964+82A>C
XR_428183.3:n.4196+82A>C
NM_170606.3:c.3961+82A>C MANE Select	NP_733751.2:n.3961+82A>C