Canonical Allele Identifier: CA370093282

Gene: KMT2C

Linked Data

• gnomAD v4: 7-152148855-T-G
• MyVariant Identifiers: chr7:g.151845940T>G (hg19) ; chr7:g.152148855T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148855T>G , CM000669.2:g.152148855T>G	GRCh38
NC_000007.13:g.151845940T>G , CM000669.1:g.151845940T>G	GRCh37
NC_000007.12:g.151476873T>G	NCBI36
NG_033948.1:g.292151A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1260A>C
ENST00000682116.1:n.2204A>C
ENST00000682283.1:c.13243A>C	ENSP00000507485.1:p.Lys4415Gln
ENST00000682629.1:n.2372A>C
ENST00000683120.1:n.8264A>C
ENST00000683178.1:c.3645A>C
ENST00000683200.1:c.10582A>C	ENSP00000508052.1:p.Lys3528Gln
ENST00000683337.1:n.4702A>C
ENST00000683502.1:c.3717A>C
ENST00000683621.1:n.1838A>C
ENST00000683640.1:n.1788A>C
ENST00000684069.1:c.1489A>C	ENSP00000507650.1:p.Lys497Gln
ENST00000684261.1:c.7969A>C	ENSP00000508097.1:p.Lys2657Gln
ENST00000684649.1:c.3717A>C
ENST00000262189.11:c.13072A>C MANE Select	ENSP00000262189.6:p.Lys4358Gln
ENST00000360104.8:c.8859A>C
ENST00000418061.2:c.3714A>C
ENST00000424877.6:c.3648A>C
ENST00000679393.1:n.7783A>C
ENST00000679560.1:c.7972A>C	ENSP00000505094.1:p.Lys2658Gln
ENST00000679882.1:c.12637A>C	ENSP00000506154.1:p.Lys4213Gln
ENST00000680029.1:c.3649A>C
ENST00000680877.1:c.7972A>C	ENSP00000505724.1:p.Lys2658Gln
ENST00000681923.1:n.2087A>C
ENST00000262189.10:c.13072A>C	ENSP00000262189.6:p.Lys4358Gln
ENST00000355193.6:c.13072A>C	ENSP00000347325.3:p.Lys4358Gln
ENST00000360104.7:c.5753A>C
ENST00000424877.5:c.2923A>C	ENSP00000410411.1:p.Lys975Gln
ENST00000473186.5:n.10954A>C
ENST00000558084.5:c.*10592A>C	ENSP00000453752.1:n.*10592A>C
NM_170606.2:c.13072A>C	NP_733751.2:p.Lys4358Gln
XM_005250025.3:c.13288A>C	XP_005250082.1:p.Lys4430Gln
XM_005250026.2:c.13285A>C	XP_005250083.1:p.Lys4429Gln
XM_005250027.3:c.13285A>C	XP_005250084.1:p.Lys4429Gln
XM_005250028.3:c.13288A>C	XP_005250085.1:p.Lys4430Gln
XM_005250031.3:c.13123A>C	XP_005250088.1:p.Lys4375Gln
XM_006716077.2:c.13285A>C	XP_006716140.1:p.Lys4429Gln
XM_006716078.2:c.13216A>C	XP_006716141.1:p.Lys4406Gln
XM_006716079.2:c.13120A>C	XP_006716142.1:p.Lys4374Gln
XM_011516450.1:c.13240A>C	XP_011514752.1:p.Lys4414Gln
XM_011516451.1:c.13168A>C	XP_011514753.1:p.Lys4390Gln
XM_011516452.1:c.13135A>C	XP_011514754.1:p.Lys4379Gln
XM_011516453.1:c.13051A>C	XP_011514755.1:p.Lys4351Gln
XM_011516454.1:c.12373A>C	XP_011514756.1:p.Lys4125Gln
XM_011516455.1:c.10834A>C	XP_011514757.1:p.Lys3612Gln
XM_011516456.1:c.13240A>C	XP_011514758.1:p.Lys4414Gln
XM_005250025.4:c.13288A>C	XP_005250082.1:p.Lys4430Gln
XM_005250026.3:c.13285A>C	XP_005250083.1:p.Lys4429Gln
XM_005250027.4:c.13285A>C	XP_005250084.1:p.Lys4429Gln
XM_005250028.4:c.13288A>C	XP_005250085.1:p.Lys4430Gln
XM_005250031.4:c.13123A>C	XP_005250088.1:p.Lys4375Gln
XM_006716077.3:c.13285A>C	XP_006716140.1:p.Lys4429Gln
XM_006716078.3:c.13216A>C	XP_006716141.1:p.Lys4406Gln
XM_006716079.3:c.13120A>C	XP_006716142.1:p.Lys4374Gln
XM_011516450.2:c.13240A>C	XP_011514752.1:p.Lys4414Gln
XM_011516451.2:c.13168A>C	XP_011514753.1:p.Lys4390Gln
XM_011516452.2:c.13135A>C	XP_011514754.1:p.Lys4379Gln
XM_011516453.2:c.13051A>C	XP_011514755.1:p.Lys4351Gln
XM_011516454.2:c.12373A>C	XP_011514756.1:p.Lys4125Gln
XM_011516456.2:c.13240A>C	XP_011514758.1:p.Lys4414Gln
XM_017012480.1:c.13288A>C	XP_016867969.1:p.Lys4430Gln
XM_017012481.1:c.13285A>C	XP_016867970.1:p.Lys4429Gln
XM_017012482.1:c.13285A>C	XP_016867971.1:p.Lys4429Gln
XM_017012483.1:c.13285A>C	XP_016867972.1:p.Lys4429Gln
XM_017012484.1:c.13255A>C	XP_016867973.1:p.Lys4419Gln
XM_017012485.1:c.13237A>C	XP_016867974.1:p.Lys4413Gln
XM_017012486.1:c.13213A>C	XP_016867975.1:p.Lys4405Gln
XM_017012487.1:c.13141A>C	XP_016867976.1:p.Lys4381Gln
XM_017012488.1:c.13105A>C	XP_016867977.1:p.Lys4369Gln
XM_017012489.1:c.9958A>C	XP_016867978.1:p.Lys3320Gln
XM_017012490.2:c.9562A>C	XP_016867979.1:p.Lys3188Gln
XM_024446852.1:c.13285A>C	XP_024302620.1:p.Lys4429Gln
XM_024446853.1:c.13213A>C	XP_024302621.1:p.Lys4405Gln
NM_170606.3:c.13072A>C MANE Select	NP_733751.2:p.Lys4358Gln