Canonical Allele Identifier: CA4578665

Gene: KMT2C

Linked Data

• dbSNP Id: rs764548280
• ExAC: 7:151845874 C / A
• gnomAD v2: 7-151845874-C-A
• gnomAD v4: 7-152148789-C-A
• MyVariant Identifiers: chr7:g.151845874C>A (hg19) ; chr7:g.152148789C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148789C>A , CM000669.2:g.152148789C>A	GRCh38
NC_000007.13:g.151845874C>A , CM000669.1:g.151845874C>A	GRCh37
NC_000007.12:g.151476807C>A	NCBI36
NG_033948.1:g.292217G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1326G>T
ENST00000682116.1:n.2270G>T
ENST00000682283.1:c.13309G>T	ENSP00000507485.1:p.Asp4437Tyr
ENST00000682629.1:n.2438G>T
ENST00000683120.1:n.8330G>T
ENST00000683178.1:c.3711G>T
ENST00000683200.1:c.10648G>T	ENSP00000508052.1:p.Asp3550Tyr
ENST00000683337.1:n.4768G>T
ENST00000683502.1:c.3783G>T
ENST00000683621.1:n.1904G>T
ENST00000683640.1:n.1854G>T
ENST00000684069.1:c.1555G>T	ENSP00000507650.1:p.Asp519Tyr
ENST00000684261.1:c.8035G>T	ENSP00000508097.1:p.Asp2679Tyr
ENST00000684649.1:c.3783G>T
ENST00000262189.11:c.13138G>T MANE Select	ENSP00000262189.6:p.Asp4380Tyr
ENST00000360104.8:c.8925G>T
ENST00000418061.2:c.3780G>T
ENST00000424877.6:c.3714G>T
ENST00000679393.1:n.7849G>T
ENST00000679560.1:c.8038G>T	ENSP00000505094.1:p.Asp2680Tyr
ENST00000679882.1:c.12703G>T	ENSP00000506154.1:p.Asp4235Tyr
ENST00000680029.1:c.3715G>T
ENST00000680877.1:c.8038G>T	ENSP00000505724.1:p.Asp2680Tyr
ENST00000681923.1:n.2153G>T
ENST00000262189.10:c.13138G>T	ENSP00000262189.6:p.Asp4380Tyr
ENST00000355193.6:c.13138G>T	ENSP00000347325.3:p.Asp4380Tyr
ENST00000360104.7:c.5819G>T
ENST00000424877.5:c.2989G>T	ENSP00000410411.1:p.Asp997Tyr
ENST00000473186.5:n.11020G>T
ENST00000558084.5:c.*10658G>T	ENSP00000453752.1:n.*10658G>T
NM_170606.2:c.13138G>T	NP_733751.2:p.Asp4380Tyr
XM_005250025.3:c.13354G>T	XP_005250082.1:p.Asp4452Tyr
XM_005250026.2:c.13351G>T	XP_005250083.1:p.Asp4451Tyr
XM_005250027.3:c.13351G>T	XP_005250084.1:p.Asp4451Tyr
XM_005250028.3:c.13354G>T	XP_005250085.1:p.Asp4452Tyr
XM_005250031.3:c.13189G>T	XP_005250088.1:p.Asp4397Tyr
XM_006716077.2:c.13351G>T	XP_006716140.1:p.Asp4451Tyr
XM_006716078.2:c.13282G>T	XP_006716141.1:p.Asp4428Tyr
XM_006716079.2:c.13186G>T	XP_006716142.1:p.Asp4396Tyr
XM_011516450.1:c.13306G>T	XP_011514752.1:p.Asp4436Tyr
XM_011516451.1:c.13234G>T	XP_011514753.1:p.Asp4412Tyr
XM_011516452.1:c.13201G>T	XP_011514754.1:p.Asp4401Tyr
XM_011516453.1:c.13117G>T	XP_011514755.1:p.Asp4373Tyr
XM_011516454.1:c.12439G>T	XP_011514756.1:p.Asp4147Tyr
XM_011516455.1:c.10900G>T	XP_011514757.1:p.Asp3634Tyr
XM_011516456.1:c.13306G>T	XP_011514758.1:p.Asp4436Tyr
XM_005250025.4:c.13354G>T	XP_005250082.1:p.Asp4452Tyr
XM_005250026.3:c.13351G>T	XP_005250083.1:p.Asp4451Tyr
XM_005250027.4:c.13351G>T	XP_005250084.1:p.Asp4451Tyr
XM_005250028.4:c.13354G>T	XP_005250085.1:p.Asp4452Tyr
XM_005250031.4:c.13189G>T	XP_005250088.1:p.Asp4397Tyr
XM_006716077.3:c.13351G>T	XP_006716140.1:p.Asp4451Tyr
XM_006716078.3:c.13282G>T	XP_006716141.1:p.Asp4428Tyr
XM_006716079.3:c.13186G>T	XP_006716142.1:p.Asp4396Tyr
XM_011516450.2:c.13306G>T	XP_011514752.1:p.Asp4436Tyr
XM_011516451.2:c.13234G>T	XP_011514753.1:p.Asp4412Tyr
XM_011516452.2:c.13201G>T	XP_011514754.1:p.Asp4401Tyr
XM_011516453.2:c.13117G>T	XP_011514755.1:p.Asp4373Tyr
XM_011516454.2:c.12439G>T	XP_011514756.1:p.Asp4147Tyr
XM_011516456.2:c.13306G>T	XP_011514758.1:p.Asp4436Tyr
XM_017012480.1:c.13354G>T	XP_016867969.1:p.Asp4452Tyr
XM_017012481.1:c.13351G>T	XP_016867970.1:p.Asp4451Tyr
XM_017012482.1:c.13351G>T	XP_016867971.1:p.Asp4451Tyr
XM_017012483.1:c.13351G>T	XP_016867972.1:p.Asp4451Tyr
XM_017012484.1:c.13321G>T	XP_016867973.1:p.Asp4441Tyr
XM_017012485.1:c.13303G>T	XP_016867974.1:p.Asp4435Tyr
XM_017012486.1:c.13279G>T	XP_016867975.1:p.Asp4427Tyr
XM_017012487.1:c.13207G>T	XP_016867976.1:p.Asp4403Tyr
XM_017012488.1:c.13171G>T	XP_016867977.1:p.Asp4391Tyr
XM_017012489.1:c.10024G>T	XP_016867978.1:p.Asp3342Tyr
XM_017012490.2:c.9628G>T	XP_016867979.1:p.Asp3210Tyr
XM_024446852.1:c.13351G>T	XP_024302620.1:p.Asp4451Tyr
XM_024446853.1:c.13279G>T	XP_024302621.1:p.Asp4427Tyr
NM_170606.3:c.13138G>T MANE Select	NP_733751.2:p.Asp4380Tyr