Canonical Allele Identifier: CA370093214

Gene: KMT2C

Linked Data

• gnomAD v4: 7-152148837-T-C
• MyVariant Identifiers: chr7:g.151845922T>C (hg19) ; chr7:g.152148837T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148837T>C , CM000669.2:g.152148837T>C	GRCh38
NC_000007.13:g.151845922T>C , CM000669.1:g.151845922T>C	GRCh37
NC_000007.12:g.151476855T>C	NCBI36
NG_033948.1:g.292169A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1278A>G
ENST00000682116.1:n.2222A>G
ENST00000682283.1:c.13261A>G	ENSP00000507485.1:p.Ile4421Val
ENST00000682629.1:n.2390A>G
ENST00000683120.1:n.8282A>G
ENST00000683178.1:c.3663A>G
ENST00000683200.1:c.10600A>G	ENSP00000508052.1:p.Ile3534Val
ENST00000683337.1:n.4720A>G
ENST00000683502.1:c.3735A>G
ENST00000683621.1:n.1856A>G
ENST00000683640.1:n.1806A>G
ENST00000684069.1:c.1507A>G	ENSP00000507650.1:p.Ile503Val
ENST00000684261.1:c.7987A>G	ENSP00000508097.1:p.Ile2663Val
ENST00000684649.1:c.3735A>G
ENST00000262189.11:c.13090A>G MANE Select	ENSP00000262189.6:p.Ile4364Val
ENST00000360104.8:c.8877A>G
ENST00000418061.2:c.3732A>G
ENST00000424877.6:c.3666A>G
ENST00000679393.1:n.7801A>G
ENST00000679560.1:c.7990A>G	ENSP00000505094.1:p.Ile2664Val
ENST00000679882.1:c.12655A>G	ENSP00000506154.1:p.Ile4219Val
ENST00000680029.1:c.3667A>G
ENST00000680877.1:c.7990A>G	ENSP00000505724.1:p.Ile2664Val
ENST00000681923.1:n.2105A>G
ENST00000262189.10:c.13090A>G	ENSP00000262189.6:p.Ile4364Val
ENST00000355193.6:c.13090A>G	ENSP00000347325.3:p.Ile4364Val
ENST00000360104.7:c.5771A>G
ENST00000424877.5:c.2941A>G	ENSP00000410411.1:p.Ile981Val
ENST00000473186.5:n.10972A>G
ENST00000558084.5:c.*10610A>G	ENSP00000453752.1:n.*10610A>G
NM_170606.2:c.13090A>G	NP_733751.2:p.Ile4364Val
XM_005250025.3:c.13306A>G	XP_005250082.1:p.Ile4436Val
XM_005250026.2:c.13303A>G	XP_005250083.1:p.Ile4435Val
XM_005250027.3:c.13303A>G	XP_005250084.1:p.Ile4435Val
XM_005250028.3:c.13306A>G	XP_005250085.1:p.Ile4436Val
XM_005250031.3:c.13141A>G	XP_005250088.1:p.Ile4381Val
XM_006716077.2:c.13303A>G	XP_006716140.1:p.Ile4435Val
XM_006716078.2:c.13234A>G	XP_006716141.1:p.Ile4412Val
XM_006716079.2:c.13138A>G	XP_006716142.1:p.Ile4380Val
XM_011516450.1:c.13258A>G	XP_011514752.1:p.Ile4420Val
XM_011516451.1:c.13186A>G	XP_011514753.1:p.Ile4396Val
XM_011516452.1:c.13153A>G	XP_011514754.1:p.Ile4385Val
XM_011516453.1:c.13069A>G	XP_011514755.1:p.Ile4357Val
XM_011516454.1:c.12391A>G	XP_011514756.1:p.Ile4131Val
XM_011516455.1:c.10852A>G	XP_011514757.1:p.Ile3618Val
XM_011516456.1:c.13258A>G	XP_011514758.1:p.Ile4420Val
XM_005250025.4:c.13306A>G	XP_005250082.1:p.Ile4436Val
XM_005250026.3:c.13303A>G	XP_005250083.1:p.Ile4435Val
XM_005250027.4:c.13303A>G	XP_005250084.1:p.Ile4435Val
XM_005250028.4:c.13306A>G	XP_005250085.1:p.Ile4436Val
XM_005250031.4:c.13141A>G	XP_005250088.1:p.Ile4381Val
XM_006716077.3:c.13303A>G	XP_006716140.1:p.Ile4435Val
XM_006716078.3:c.13234A>G	XP_006716141.1:p.Ile4412Val
XM_006716079.3:c.13138A>G	XP_006716142.1:p.Ile4380Val
XM_011516450.2:c.13258A>G	XP_011514752.1:p.Ile4420Val
XM_011516451.2:c.13186A>G	XP_011514753.1:p.Ile4396Val
XM_011516452.2:c.13153A>G	XP_011514754.1:p.Ile4385Val
XM_011516453.2:c.13069A>G	XP_011514755.1:p.Ile4357Val
XM_011516454.2:c.12391A>G	XP_011514756.1:p.Ile4131Val
XM_011516456.2:c.13258A>G	XP_011514758.1:p.Ile4420Val
XM_017012480.1:c.13306A>G	XP_016867969.1:p.Ile4436Val
XM_017012481.1:c.13303A>G	XP_016867970.1:p.Ile4435Val
XM_017012482.1:c.13303A>G	XP_016867971.1:p.Ile4435Val
XM_017012483.1:c.13303A>G	XP_016867972.1:p.Ile4435Val
XM_017012484.1:c.13273A>G	XP_016867973.1:p.Ile4425Val
XM_017012485.1:c.13255A>G	XP_016867974.1:p.Ile4419Val
XM_017012486.1:c.13231A>G	XP_016867975.1:p.Ile4411Val
XM_017012487.1:c.13159A>G	XP_016867976.1:p.Ile4387Val
XM_017012488.1:c.13123A>G	XP_016867977.1:p.Ile4375Val
XM_017012489.1:c.9976A>G	XP_016867978.1:p.Ile3326Val
XM_017012490.2:c.9580A>G	XP_016867979.1:p.Ile3194Val
XM_024446852.1:c.13303A>G	XP_024302620.1:p.Ile4435Val
XM_024446853.1:c.13231A>G	XP_024302621.1:p.Ile4411Val
NM_170606.3:c.13090A>G MANE Select	NP_733751.2:p.Ile4364Val