Canonical Allele Identifier: CA370093027

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151845867A>G (hg19) ; chr7:g.152148782A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148782A>G , CM000669.2:g.152148782A>G	GRCh38
NC_000007.13:g.151845867A>G , CM000669.1:g.151845867A>G	GRCh37
NC_000007.12:g.151476800A>G	NCBI36
NG_033948.1:g.292224T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682040.1:c.1333T>C
ENST00000682116.1:n.2277T>C
ENST00000682283.1:c.13316T>C	ENSP00000507485.1:p.Phe4439Ser
ENST00000682629.1:n.2445T>C
ENST00000683120.1:n.8337T>C
ENST00000683178.1:c.3718T>C
ENST00000683200.1:c.10655T>C	ENSP00000508052.1:p.Phe3552Ser
ENST00000683337.1:n.4775T>C
ENST00000683502.1:c.3790T>C
ENST00000683621.1:n.1911T>C
ENST00000683640.1:n.1861T>C
ENST00000684069.1:c.1562T>C	ENSP00000507650.1:p.Phe521Ser
ENST00000684261.1:c.8042T>C	ENSP00000508097.1:p.Phe2681Ser
ENST00000684649.1:c.3790T>C
ENST00000262189.11:c.13145T>C MANE Select	ENSP00000262189.6:p.Phe4382Ser
ENST00000360104.8:c.8932T>C
ENST00000418061.2:c.3787T>C
ENST00000424877.6:c.3721T>C
ENST00000679393.1:n.7856T>C
ENST00000679560.1:c.8045T>C	ENSP00000505094.1:p.Phe2682Ser
ENST00000679882.1:c.12710T>C	ENSP00000506154.1:p.Phe4237Ser
ENST00000680029.1:c.3722T>C
ENST00000680877.1:c.8045T>C	ENSP00000505724.1:p.Phe2682Ser
ENST00000681923.1:n.2160T>C
ENST00000262189.10:c.13145T>C	ENSP00000262189.6:p.Phe4382Ser
ENST00000355193.6:c.13145T>C	ENSP00000347325.3:p.Phe4382Ser
ENST00000360104.7:c.5826T>C
ENST00000424877.5:c.2996T>C	ENSP00000410411.1:p.Phe999Ser
ENST00000473186.5:n.11027T>C
ENST00000558084.5:c.*10665T>C	ENSP00000453752.1:n.*10665T>C
NM_170606.2:c.13145T>C	NP_733751.2:p.Phe4382Ser
XM_005250025.3:c.13361T>C	XP_005250082.1:p.Phe4454Ser
XM_005250026.2:c.13358T>C	XP_005250083.1:p.Phe4453Ser
XM_005250027.3:c.13358T>C	XP_005250084.1:p.Phe4453Ser
XM_005250028.3:c.13361T>C	XP_005250085.1:p.Phe4454Ser
XM_005250031.3:c.13196T>C	XP_005250088.1:p.Phe4399Ser
XM_006716077.2:c.13358T>C	XP_006716140.1:p.Phe4453Ser
XM_006716078.2:c.13289T>C	XP_006716141.1:p.Phe4430Ser
XM_006716079.2:c.13193T>C	XP_006716142.1:p.Phe4398Ser
XM_011516450.1:c.13313T>C	XP_011514752.1:p.Phe4438Ser
XM_011516451.1:c.13241T>C	XP_011514753.1:p.Phe4414Ser
XM_011516452.1:c.13208T>C	XP_011514754.1:p.Phe4403Ser
XM_011516453.1:c.13124T>C	XP_011514755.1:p.Phe4375Ser
XM_011516454.1:c.12446T>C	XP_011514756.1:p.Phe4149Ser
XM_011516455.1:c.10907T>C	XP_011514757.1:p.Phe3636Ser
XM_011516456.1:c.13313T>C	XP_011514758.1:p.Phe4438Ser
XM_005250025.4:c.13361T>C	XP_005250082.1:p.Phe4454Ser
XM_005250026.3:c.13358T>C	XP_005250083.1:p.Phe4453Ser
XM_005250027.4:c.13358T>C	XP_005250084.1:p.Phe4453Ser
XM_005250028.4:c.13361T>C	XP_005250085.1:p.Phe4454Ser
XM_005250031.4:c.13196T>C	XP_005250088.1:p.Phe4399Ser
XM_006716077.3:c.13358T>C	XP_006716140.1:p.Phe4453Ser
XM_006716078.3:c.13289T>C	XP_006716141.1:p.Phe4430Ser
XM_006716079.3:c.13193T>C	XP_006716142.1:p.Phe4398Ser
XM_011516450.2:c.13313T>C	XP_011514752.1:p.Phe4438Ser
XM_011516451.2:c.13241T>C	XP_011514753.1:p.Phe4414Ser
XM_011516452.2:c.13208T>C	XP_011514754.1:p.Phe4403Ser
XM_011516453.2:c.13124T>C	XP_011514755.1:p.Phe4375Ser
XM_011516454.2:c.12446T>C	XP_011514756.1:p.Phe4149Ser
XM_011516456.2:c.13313T>C	XP_011514758.1:p.Phe4438Ser
XM_017012480.1:c.13361T>C	XP_016867969.1:p.Phe4454Ser
XM_017012481.1:c.13358T>C	XP_016867970.1:p.Phe4453Ser
XM_017012482.1:c.13358T>C	XP_016867971.1:p.Phe4453Ser
XM_017012483.1:c.13358T>C	XP_016867972.1:p.Phe4453Ser
XM_017012484.1:c.13328T>C	XP_016867973.1:p.Phe4443Ser
XM_017012485.1:c.13310T>C	XP_016867974.1:p.Phe4437Ser
XM_017012486.1:c.13286T>C	XP_016867975.1:p.Phe4429Ser
XM_017012487.1:c.13214T>C	XP_016867976.1:p.Phe4405Ser
XM_017012488.1:c.13178T>C	XP_016867977.1:p.Phe4393Ser
XM_017012489.1:c.10031T>C	XP_016867978.1:p.Phe3344Ser
XM_017012490.2:c.9635T>C	XP_016867979.1:p.Phe3212Ser
XM_024446852.1:c.13358T>C	XP_024302620.1:p.Phe4453Ser
XM_024446853.1:c.13286T>C	XP_024302621.1:p.Phe4429Ser
NM_170606.3:c.13145T>C MANE Select	NP_733751.2:p.Phe4382Ser