Canonical Allele Identifier: CA370093098

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151845886C>A (hg19) ; chr7:g.152148801C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148801C>A , CM000669.2:g.152148801C>A	GRCh38
NC_000007.13:g.151845886C>A , CM000669.1:g.151845886C>A	GRCh37
NC_000007.12:g.151476819C>A	NCBI36
NG_033948.1:g.292205G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1314G>T
ENST00000682116.1:n.2258G>T
ENST00000682283.1:c.13297G>T	ENSP00000507485.1:p.Glu4433Ter
ENST00000682629.1:n.2426G>T
ENST00000683120.1:n.8318G>T
ENST00000683178.1:c.3699G>T
ENST00000683200.1:c.10636G>T	ENSP00000508052.1:p.Glu3546Ter
ENST00000683337.1:n.4756G>T
ENST00000683502.1:c.3771G>T
ENST00000683621.1:n.1892G>T
ENST00000683640.1:n.1842G>T
ENST00000684069.1:c.1543G>T	ENSP00000507650.1:p.Glu515Ter
ENST00000684261.1:c.8023G>T	ENSP00000508097.1:p.Glu2675Ter
ENST00000684649.1:c.3771G>T
ENST00000262189.11:c.13126G>T MANE Select	ENSP00000262189.6:p.Glu4376Ter
ENST00000360104.8:c.8913G>T
ENST00000418061.2:c.3768G>T
ENST00000424877.6:c.3702G>T
ENST00000679393.1:n.7837G>T
ENST00000679560.1:c.8026G>T	ENSP00000505094.1:p.Glu2676Ter
ENST00000679882.1:c.12691G>T	ENSP00000506154.1:p.Glu4231Ter
ENST00000680029.1:c.3703G>T
ENST00000680877.1:c.8026G>T	ENSP00000505724.1:p.Glu2676Ter
ENST00000681923.1:n.2141G>T
ENST00000262189.10:c.13126G>T	ENSP00000262189.6:p.Glu4376Ter
ENST00000355193.6:c.13126G>T	ENSP00000347325.3:p.Glu4376Ter
ENST00000360104.7:c.5807G>T
ENST00000424877.5:c.2977G>T	ENSP00000410411.1:p.Glu993Ter
ENST00000473186.5:n.11008G>T
ENST00000558084.5:c.*10646G>T	ENSP00000453752.1:n.*10646G>T
NM_170606.2:c.13126G>T	NP_733751.2:p.Glu4376Ter
XM_005250025.3:c.13342G>T	XP_005250082.1:p.Glu4448Ter
XM_005250026.2:c.13339G>T	XP_005250083.1:p.Glu4447Ter
XM_005250027.3:c.13339G>T	XP_005250084.1:p.Glu4447Ter
XM_005250028.3:c.13342G>T	XP_005250085.1:p.Glu4448Ter
XM_005250031.3:c.13177G>T	XP_005250088.1:p.Glu4393Ter
XM_006716077.2:c.13339G>T	XP_006716140.1:p.Glu4447Ter
XM_006716078.2:c.13270G>T	XP_006716141.1:p.Glu4424Ter
XM_006716079.2:c.13174G>T	XP_006716142.1:p.Glu4392Ter
XM_011516450.1:c.13294G>T	XP_011514752.1:p.Glu4432Ter
XM_011516451.1:c.13222G>T	XP_011514753.1:p.Glu4408Ter
XM_011516452.1:c.13189G>T	XP_011514754.1:p.Glu4397Ter
XM_011516453.1:c.13105G>T	XP_011514755.1:p.Glu4369Ter
XM_011516454.1:c.12427G>T	XP_011514756.1:p.Glu4143Ter
XM_011516455.1:c.10888G>T	XP_011514757.1:p.Glu3630Ter
XM_011516456.1:c.13294G>T	XP_011514758.1:p.Glu4432Ter
XM_005250025.4:c.13342G>T	XP_005250082.1:p.Glu4448Ter
XM_005250026.3:c.13339G>T	XP_005250083.1:p.Glu4447Ter
XM_005250027.4:c.13339G>T	XP_005250084.1:p.Glu4447Ter
XM_005250028.4:c.13342G>T	XP_005250085.1:p.Glu4448Ter
XM_005250031.4:c.13177G>T	XP_005250088.1:p.Glu4393Ter
XM_006716077.3:c.13339G>T	XP_006716140.1:p.Glu4447Ter
XM_006716078.3:c.13270G>T	XP_006716141.1:p.Glu4424Ter
XM_006716079.3:c.13174G>T	XP_006716142.1:p.Glu4392Ter
XM_011516450.2:c.13294G>T	XP_011514752.1:p.Glu4432Ter
XM_011516451.2:c.13222G>T	XP_011514753.1:p.Glu4408Ter
XM_011516452.2:c.13189G>T	XP_011514754.1:p.Glu4397Ter
XM_011516453.2:c.13105G>T	XP_011514755.1:p.Glu4369Ter
XM_011516454.2:c.12427G>T	XP_011514756.1:p.Glu4143Ter
XM_011516456.2:c.13294G>T	XP_011514758.1:p.Glu4432Ter
XM_017012480.1:c.13342G>T	XP_016867969.1:p.Glu4448Ter
XM_017012481.1:c.13339G>T	XP_016867970.1:p.Glu4447Ter
XM_017012482.1:c.13339G>T	XP_016867971.1:p.Glu4447Ter
XM_017012483.1:c.13339G>T	XP_016867972.1:p.Glu4447Ter
XM_017012484.1:c.13309G>T	XP_016867973.1:p.Glu4437Ter
XM_017012485.1:c.13291G>T	XP_016867974.1:p.Glu4431Ter
XM_017012486.1:c.13267G>T	XP_016867975.1:p.Glu4423Ter
XM_017012487.1:c.13195G>T	XP_016867976.1:p.Glu4399Ter
XM_017012488.1:c.13159G>T	XP_016867977.1:p.Glu4387Ter
XM_017012489.1:c.10012G>T	XP_016867978.1:p.Glu3338Ter
XM_017012490.2:c.9616G>T	XP_016867979.1:p.Glu3206Ter
XM_024446852.1:c.13339G>T	XP_024302620.1:p.Glu4447Ter
XM_024446853.1:c.13267G>T	XP_024302621.1:p.Glu4423Ter
NM_170606.3:c.13126G>T MANE Select	NP_733751.2:p.Glu4376Ter