Canonical Allele Identifier: CA4578661

Gene: KMT2C

Linked Data

• dbSNP Id: rs746100920
• ExAC: 7:151845861 T / C
• gnomAD v2: 7-151845861-T-C
• gnomAD v4: 7-152148776-T-C
• MyVariant Identifiers: chr7:g.151845861T>C (hg19) ; chr7:g.152148776T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148776T>C , CM000669.2:g.152148776T>C	GRCh38
NC_000007.13:g.151845861T>C , CM000669.1:g.151845861T>C	GRCh37
NC_000007.12:g.151476794T>C	NCBI36
NG_033948.1:g.292230A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682040.1:c.1339A>G
ENST00000682116.1:n.2283A>G
ENST00000682283.1:c.13322A>G	ENSP00000507485.1:p.Lys4441Arg
ENST00000682629.1:n.2451A>G
ENST00000683120.1:n.8343A>G
ENST00000683178.1:c.3724A>G
ENST00000683200.1:c.10661A>G	ENSP00000508052.1:p.Lys3554Arg
ENST00000683337.1:n.4781A>G
ENST00000683502.1:c.3796A>G
ENST00000683621.1:n.1917A>G
ENST00000683640.1:n.1867A>G
ENST00000684069.1:c.1568A>G	ENSP00000507650.1:p.Lys523Arg
ENST00000684261.1:c.8048A>G	ENSP00000508097.1:p.Lys2683Arg
ENST00000684649.1:c.3796A>G
ENST00000262189.11:c.13151A>G MANE Select	ENSP00000262189.6:p.Lys4384Arg
ENST00000360104.8:c.8938A>G
ENST00000418061.2:c.3793A>G
ENST00000424877.6:c.3727A>G
ENST00000679393.1:n.7862A>G
ENST00000679560.1:c.8051A>G	ENSP00000505094.1:p.Lys2684Arg
ENST00000679882.1:c.12716A>G	ENSP00000506154.1:p.Lys4239Arg
ENST00000680029.1:c.3728A>G
ENST00000680877.1:c.8051A>G	ENSP00000505724.1:p.Lys2684Arg
ENST00000681923.1:n.2166A>G
ENST00000262189.10:c.13151A>G	ENSP00000262189.6:p.Lys4384Arg
ENST00000355193.6:c.13151A>G	ENSP00000347325.3:p.Lys4384Arg
ENST00000360104.7:c.5832A>G
ENST00000424877.5:c.3002A>G	ENSP00000410411.1:p.Lys1001Arg
ENST00000473186.5:n.11033A>G
ENST00000558084.5:c.*10671A>G	ENSP00000453752.1:n.*10671A>G
NM_170606.2:c.13151A>G	NP_733751.2:p.Lys4384Arg
XM_005250025.3:c.13367A>G	XP_005250082.1:p.Lys4456Arg
XM_005250026.2:c.13364A>G	XP_005250083.1:p.Lys4455Arg
XM_005250027.3:c.13364A>G	XP_005250084.1:p.Lys4455Arg
XM_005250028.3:c.13367A>G	XP_005250085.1:p.Lys4456Arg
XM_005250031.3:c.13202A>G	XP_005250088.1:p.Lys4401Arg
XM_006716077.2:c.13364A>G	XP_006716140.1:p.Lys4455Arg
XM_006716078.2:c.13295A>G	XP_006716141.1:p.Lys4432Arg
XM_006716079.2:c.13199A>G	XP_006716142.1:p.Lys4400Arg
XM_011516450.1:c.13319A>G	XP_011514752.1:p.Lys4440Arg
XM_011516451.1:c.13247A>G	XP_011514753.1:p.Lys4416Arg
XM_011516452.1:c.13214A>G	XP_011514754.1:p.Lys4405Arg
XM_011516453.1:c.13130A>G	XP_011514755.1:p.Lys4377Arg
XM_011516454.1:c.12452A>G	XP_011514756.1:p.Lys4151Arg
XM_011516455.1:c.10913A>G	XP_011514757.1:p.Lys3638Arg
XM_011516456.1:c.13319A>G	XP_011514758.1:p.Lys4440Arg
XM_005250025.4:c.13367A>G	XP_005250082.1:p.Lys4456Arg
XM_005250026.3:c.13364A>G	XP_005250083.1:p.Lys4455Arg
XM_005250027.4:c.13364A>G	XP_005250084.1:p.Lys4455Arg
XM_005250028.4:c.13367A>G	XP_005250085.1:p.Lys4456Arg
XM_005250031.4:c.13202A>G	XP_005250088.1:p.Lys4401Arg
XM_006716077.3:c.13364A>G	XP_006716140.1:p.Lys4455Arg
XM_006716078.3:c.13295A>G	XP_006716141.1:p.Lys4432Arg
XM_006716079.3:c.13199A>G	XP_006716142.1:p.Lys4400Arg
XM_011516450.2:c.13319A>G	XP_011514752.1:p.Lys4440Arg
XM_011516451.2:c.13247A>G	XP_011514753.1:p.Lys4416Arg
XM_011516452.2:c.13214A>G	XP_011514754.1:p.Lys4405Arg
XM_011516453.2:c.13130A>G	XP_011514755.1:p.Lys4377Arg
XM_011516454.2:c.12452A>G	XP_011514756.1:p.Lys4151Arg
XM_011516456.2:c.13319A>G	XP_011514758.1:p.Lys4440Arg
XM_017012480.1:c.13367A>G	XP_016867969.1:p.Lys4456Arg
XM_017012481.1:c.13364A>G	XP_016867970.1:p.Lys4455Arg
XM_017012482.1:c.13364A>G	XP_016867971.1:p.Lys4455Arg
XM_017012483.1:c.13364A>G	XP_016867972.1:p.Lys4455Arg
XM_017012484.1:c.13334A>G	XP_016867973.1:p.Lys4445Arg
XM_017012485.1:c.13316A>G	XP_016867974.1:p.Lys4439Arg
XM_017012486.1:c.13292A>G	XP_016867975.1:p.Lys4431Arg
XM_017012487.1:c.13220A>G	XP_016867976.1:p.Lys4407Arg
XM_017012488.1:c.13184A>G	XP_016867977.1:p.Lys4395Arg
XM_017012489.1:c.10037A>G	XP_016867978.1:p.Lys3346Arg
XM_017012490.2:c.9641A>G	XP_016867979.1:p.Lys3214Arg
XM_024446852.1:c.13364A>G	XP_024302620.1:p.Lys4455Arg
XM_024446853.1:c.13292A>G	XP_024302621.1:p.Lys4431Arg
NM_170606.3:c.13151A>G MANE Select	NP_733751.2:p.Lys4384Arg