Canonical Allele Identifier: CA370093344

Gene: KMT2C

Linked Data

• dbSNP Id: rs2129095582
• MyVariant Identifiers: chr7:g.151845956C>G (hg19) ; chr7:g.152148871C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148871C>G , CM000669.2:g.152148871C>G	GRCh38
NC_000007.13:g.151845956C>G , CM000669.1:g.151845956C>G	GRCh37
NC_000007.12:g.151476889C>G	NCBI36
NG_033948.1:g.292135G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1244G>C
ENST00000682116.1:n.2188G>C
ENST00000682283.1:c.13227G>C	ENSP00000507485.1:p.Trp4409Cys
ENST00000682629.1:n.2356G>C
ENST00000683120.1:n.8248G>C
ENST00000683178.1:c.3629G>C
ENST00000683200.1:c.10566G>C	ENSP00000508052.1:p.Trp3522Cys
ENST00000683337.1:n.4686G>C
ENST00000683502.1:c.3701G>C
ENST00000683621.1:n.1822G>C
ENST00000683640.1:n.1772G>C
ENST00000684069.1:c.1473G>C	ENSP00000507650.1:p.Trp491Cys
ENST00000684261.1:c.7953G>C	ENSP00000508097.1:p.Trp2651Cys
ENST00000684649.1:c.3701G>C
ENST00000262189.11:c.13056G>C MANE Select	ENSP00000262189.6:p.Trp4352Cys
ENST00000360104.8:c.8843G>C
ENST00000418061.2:c.3698G>C
ENST00000424877.6:c.3632G>C
ENST00000679393.1:n.7767G>C
ENST00000679560.1:c.7956G>C	ENSP00000505094.1:p.Trp2652Cys
ENST00000679882.1:c.12621G>C	ENSP00000506154.1:p.Trp4207Cys
ENST00000680029.1:c.3633G>C
ENST00000680877.1:c.7956G>C	ENSP00000505724.1:p.Trp2652Cys
ENST00000681923.1:n.2071G>C
ENST00000262189.10:c.13056G>C	ENSP00000262189.6:p.Trp4352Cys
ENST00000355193.6:c.13056G>C	ENSP00000347325.3:p.Trp4352Cys
ENST00000360104.7:c.5737G>C
ENST00000424877.5:c.2907G>C	ENSP00000410411.1:p.Trp969Cys
ENST00000473186.5:n.10938G>C
ENST00000558084.5:c.*10576G>C	ENSP00000453752.1:n.*10576G>C
NM_170606.2:c.13056G>C	NP_733751.2:p.Trp4352Cys
XM_005250025.3:c.13272G>C	XP_005250082.1:p.Trp4424Cys
XM_005250026.2:c.13269G>C	XP_005250083.1:p.Trp4423Cys
XM_005250027.3:c.13269G>C	XP_005250084.1:p.Trp4423Cys
XM_005250028.3:c.13272G>C	XP_005250085.1:p.Trp4424Cys
XM_005250031.3:c.13107G>C	XP_005250088.1:p.Trp4369Cys
XM_006716077.2:c.13269G>C	XP_006716140.1:p.Trp4423Cys
XM_006716078.2:c.13200G>C	XP_006716141.1:p.Trp4400Cys
XM_006716079.2:c.13104G>C	XP_006716142.1:p.Trp4368Cys
XM_011516450.1:c.13224G>C	XP_011514752.1:p.Trp4408Cys
XM_011516451.1:c.13152G>C	XP_011514753.1:p.Trp4384Cys
XM_011516452.1:c.13119G>C	XP_011514754.1:p.Trp4373Cys
XM_011516453.1:c.13035G>C	XP_011514755.1:p.Trp4345Cys
XM_011516454.1:c.12357G>C	XP_011514756.1:p.Trp4119Cys
XM_011516455.1:c.10818G>C	XP_011514757.1:p.Trp3606Cys
XM_011516456.1:c.13224G>C	XP_011514758.1:p.Trp4408Cys
XM_005250025.4:c.13272G>C	XP_005250082.1:p.Trp4424Cys
XM_005250026.3:c.13269G>C	XP_005250083.1:p.Trp4423Cys
XM_005250027.4:c.13269G>C	XP_005250084.1:p.Trp4423Cys
XM_005250028.4:c.13272G>C	XP_005250085.1:p.Trp4424Cys
XM_005250031.4:c.13107G>C	XP_005250088.1:p.Trp4369Cys
XM_006716077.3:c.13269G>C	XP_006716140.1:p.Trp4423Cys
XM_006716078.3:c.13200G>C	XP_006716141.1:p.Trp4400Cys
XM_006716079.3:c.13104G>C	XP_006716142.1:p.Trp4368Cys
XM_011516450.2:c.13224G>C	XP_011514752.1:p.Trp4408Cys
XM_011516451.2:c.13152G>C	XP_011514753.1:p.Trp4384Cys
XM_011516452.2:c.13119G>C	XP_011514754.1:p.Trp4373Cys
XM_011516453.2:c.13035G>C	XP_011514755.1:p.Trp4345Cys
XM_011516454.2:c.12357G>C	XP_011514756.1:p.Trp4119Cys
XM_011516456.2:c.13224G>C	XP_011514758.1:p.Trp4408Cys
XM_017012480.1:c.13272G>C	XP_016867969.1:p.Trp4424Cys
XM_017012481.1:c.13269G>C	XP_016867970.1:p.Trp4423Cys
XM_017012482.1:c.13269G>C	XP_016867971.1:p.Trp4423Cys
XM_017012483.1:c.13269G>C	XP_016867972.1:p.Trp4423Cys
XM_017012484.1:c.13239G>C	XP_016867973.1:p.Trp4413Cys
XM_017012485.1:c.13221G>C	XP_016867974.1:p.Trp4407Cys
XM_017012486.1:c.13197G>C	XP_016867975.1:p.Trp4399Cys
XM_017012487.1:c.13125G>C	XP_016867976.1:p.Trp4375Cys
XM_017012488.1:c.13089G>C	XP_016867977.1:p.Trp4363Cys
XM_017012489.1:c.9942G>C	XP_016867978.1:p.Trp3314Cys
XM_017012490.2:c.9546G>C	XP_016867979.1:p.Trp3182Cys
XM_024446852.1:c.13269G>C	XP_024302620.1:p.Trp4423Cys
XM_024446853.1:c.13197G>C	XP_024302621.1:p.Trp4399Cys
NM_170606.3:c.13056G>C MANE Select	NP_733751.2:p.Trp4352Cys