Canonical Allele Identifier: CA370091831

Gene: KMT2C

Linked Data

• dbSNP Id: rs2129095487
• MyVariant Identifiers: chr7:g.151845762G>C (hg19) ; chr7:g.152148677G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148677G>C , CM000669.2:g.152148677G>C	GRCh38
NC_000007.13:g.151845762G>C , CM000669.1:g.151845762G>C	GRCh37
NC_000007.12:g.151476695G>C	NCBI36
NG_033948.1:g.292329C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682040.1:c.1438C>G
ENST00000682116.1:n.2382C>G
ENST00000682283.1:c.13421C>G	ENSP00000507485.1:p.Ala4474Gly
ENST00000682629.1:n.2550C>G
ENST00000683120.1:n.8442C>G
ENST00000683178.1:c.3823C>G
ENST00000683200.1:c.10760C>G	ENSP00000508052.1:p.Ala3587Gly
ENST00000683337.1:n.4880C>G
ENST00000683502.1:c.3895C>G
ENST00000683621.1:n.2016C>G
ENST00000683640.1:n.1966C>G
ENST00000684069.1:c.1667C>G	ENSP00000507650.1:p.Ala556Gly
ENST00000684261.1:c.8147C>G	ENSP00000508097.1:p.Ala2716Gly
ENST00000684391.1:n.8C>G
ENST00000684649.1:c.3895C>G
ENST00000262189.11:c.13250C>G MANE Select	ENSP00000262189.6:p.Ala4417Gly
ENST00000360104.8:c.9037C>G
ENST00000418061.2:c.3892C>G
ENST00000424877.6:c.3826C>G
ENST00000679393.1:n.7961C>G
ENST00000679560.1:c.8150C>G	ENSP00000505094.1:p.Ala2717Gly
ENST00000679882.1:c.12815C>G	ENSP00000506154.1:p.Ala4272Gly
ENST00000680029.1:c.3827C>G
ENST00000680877.1:c.8150C>G	ENSP00000505724.1:p.Ala2717Gly
ENST00000681923.1:n.2265C>G
ENST00000262189.10:c.13250C>G	ENSP00000262189.6:p.Ala4417Gly
ENST00000355193.6:c.13250C>G	ENSP00000347325.3:p.Ala4417Gly
ENST00000360104.7:c.5931C>G
ENST00000424877.5:c.3101C>G	ENSP00000410411.1:p.Ala1034Gly
ENST00000473186.5:n.11132C>G
ENST00000558084.5:c.*10770C>G	ENSP00000453752.1:n.*10770C>G
NM_170606.2:c.13250C>G	NP_733751.2:p.Ala4417Gly
XM_005250025.3:c.13466C>G	XP_005250082.1:p.Ala4489Gly
XM_005250026.2:c.13463C>G	XP_005250083.1:p.Ala4488Gly
XM_005250027.3:c.13463C>G	XP_005250084.1:p.Ala4488Gly
XM_005250028.3:c.13466C>G	XP_005250085.1:p.Ala4489Gly
XM_005250031.3:c.13301C>G	XP_005250088.1:p.Ala4434Gly
XM_006716077.2:c.13463C>G	XP_006716140.1:p.Ala4488Gly
XM_006716078.2:c.13394C>G	XP_006716141.1:p.Ala4465Gly
XM_006716079.2:c.13298C>G	XP_006716142.1:p.Ala4433Gly
XM_011516450.1:c.13418C>G	XP_011514752.1:p.Ala4473Gly
XM_011516451.1:c.13346C>G	XP_011514753.1:p.Ala4449Gly
XM_011516452.1:c.13313C>G	XP_011514754.1:p.Ala4438Gly
XM_011516453.1:c.13229C>G	XP_011514755.1:p.Ala4410Gly
XM_011516454.1:c.12551C>G	XP_011514756.1:p.Ala4184Gly
XM_011516455.1:c.11012C>G	XP_011514757.1:p.Ala3671Gly
XM_011516456.1:c.13418C>G	XP_011514758.1:p.Ala4473Gly
XM_005250025.4:c.13466C>G	XP_005250082.1:p.Ala4489Gly
XM_005250026.3:c.13463C>G	XP_005250083.1:p.Ala4488Gly
XM_005250027.4:c.13463C>G	XP_005250084.1:p.Ala4488Gly
XM_005250028.4:c.13466C>G	XP_005250085.1:p.Ala4489Gly
XM_005250031.4:c.13301C>G	XP_005250088.1:p.Ala4434Gly
XM_006716077.3:c.13463C>G	XP_006716140.1:p.Ala4488Gly
XM_006716078.3:c.13394C>G	XP_006716141.1:p.Ala4465Gly
XM_006716079.3:c.13298C>G	XP_006716142.1:p.Ala4433Gly
XM_011516450.2:c.13418C>G	XP_011514752.1:p.Ala4473Gly
XM_011516451.2:c.13346C>G	XP_011514753.1:p.Ala4449Gly
XM_011516452.2:c.13313C>G	XP_011514754.1:p.Ala4438Gly
XM_011516453.2:c.13229C>G	XP_011514755.1:p.Ala4410Gly
XM_011516454.2:c.12551C>G	XP_011514756.1:p.Ala4184Gly
XM_011516456.2:c.13418C>G	XP_011514758.1:p.Ala4473Gly
XM_017012480.1:c.13466C>G	XP_016867969.1:p.Ala4489Gly
XM_017012481.1:c.13463C>G	XP_016867970.1:p.Ala4488Gly
XM_017012482.1:c.13463C>G	XP_016867971.1:p.Ala4488Gly
XM_017012483.1:c.13463C>G	XP_016867972.1:p.Ala4488Gly
XM_017012484.1:c.13433C>G	XP_016867973.1:p.Ala4478Gly
XM_017012485.1:c.13415C>G	XP_016867974.1:p.Ala4472Gly
XM_017012486.1:c.13391C>G	XP_016867975.1:p.Ala4464Gly
XM_017012487.1:c.13319C>G	XP_016867976.1:p.Ala4440Gly
XM_017012488.1:c.13283C>G	XP_016867977.1:p.Ala4428Gly
XM_017012489.1:c.10136C>G	XP_016867978.1:p.Ala3379Gly
XM_017012490.2:c.9740C>G	XP_016867979.1:p.Ala3247Gly
XM_024446852.1:c.13463C>G	XP_024302620.1:p.Ala4488Gly
XM_024446853.1:c.13391C>G	XP_024302621.1:p.Ala4464Gly
NM_170606.3:c.13250C>G MANE Select	NP_733751.2:p.Ala4417Gly