Canonical Allele Identifier: CA370093139

Gene: KMT2C

Linked Data

• dbSNP Id: rs1195009464
• gnomAD v3: 7-152148813-T-G
• gnomAD v4: 7-152148813-T-G
• MyVariant Identifiers: chr7:g.151845898T>G (hg19) ; chr7:g.152148813T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148813T>G , CM000669.2:g.152148813T>G	GRCh38
NC_000007.13:g.151845898T>G , CM000669.1:g.151845898T>G	GRCh37
NC_000007.12:g.151476831T>G	NCBI36
NG_033948.1:g.292193A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1302A>C
ENST00000682116.1:n.2246A>C
ENST00000682283.1:c.13285A>C	ENSP00000507485.1:p.Lys4429Gln
ENST00000682629.1:n.2414A>C
ENST00000683120.1:n.8306A>C
ENST00000683178.1:c.3687A>C
ENST00000683200.1:c.10624A>C	ENSP00000508052.1:p.Lys3542Gln
ENST00000683337.1:n.4744A>C
ENST00000683502.1:c.3759A>C
ENST00000683621.1:n.1880A>C
ENST00000683640.1:n.1830A>C
ENST00000684069.1:c.1531A>C	ENSP00000507650.1:p.Lys511Gln
ENST00000684261.1:c.8011A>C	ENSP00000508097.1:p.Lys2671Gln
ENST00000684649.1:c.3759A>C
ENST00000262189.11:c.13114A>C MANE Select	ENSP00000262189.6:p.Lys4372Gln
ENST00000360104.8:c.8901A>C
ENST00000418061.2:c.3756A>C
ENST00000424877.6:c.3690A>C
ENST00000679393.1:n.7825A>C
ENST00000679560.1:c.8014A>C	ENSP00000505094.1:p.Lys2672Gln
ENST00000679882.1:c.12679A>C	ENSP00000506154.1:p.Lys4227Gln
ENST00000680029.1:c.3691A>C
ENST00000680877.1:c.8014A>C	ENSP00000505724.1:p.Lys2672Gln
ENST00000681923.1:n.2129A>C
ENST00000262189.10:c.13114A>C	ENSP00000262189.6:p.Lys4372Gln
ENST00000355193.6:c.13114A>C	ENSP00000347325.3:p.Lys4372Gln
ENST00000360104.7:c.5795A>C
ENST00000424877.5:c.2965A>C	ENSP00000410411.1:p.Lys989Gln
ENST00000473186.5:n.10996A>C
ENST00000558084.5:c.*10634A>C	ENSP00000453752.1:n.*10634A>C
NM_170606.2:c.13114A>C	NP_733751.2:p.Lys4372Gln
XM_005250025.3:c.13330A>C	XP_005250082.1:p.Lys4444Gln
XM_005250026.2:c.13327A>C	XP_005250083.1:p.Lys4443Gln
XM_005250027.3:c.13327A>C	XP_005250084.1:p.Lys4443Gln
XM_005250028.3:c.13330A>C	XP_005250085.1:p.Lys4444Gln
XM_005250031.3:c.13165A>C	XP_005250088.1:p.Lys4389Gln
XM_006716077.2:c.13327A>C	XP_006716140.1:p.Lys4443Gln
XM_006716078.2:c.13258A>C	XP_006716141.1:p.Lys4420Gln
XM_006716079.2:c.13162A>C	XP_006716142.1:p.Lys4388Gln
XM_011516450.1:c.13282A>C	XP_011514752.1:p.Lys4428Gln
XM_011516451.1:c.13210A>C	XP_011514753.1:p.Lys4404Gln
XM_011516452.1:c.13177A>C	XP_011514754.1:p.Lys4393Gln
XM_011516453.1:c.13093A>C	XP_011514755.1:p.Lys4365Gln
XM_011516454.1:c.12415A>C	XP_011514756.1:p.Lys4139Gln
XM_011516455.1:c.10876A>C	XP_011514757.1:p.Lys3626Gln
XM_011516456.1:c.13282A>C	XP_011514758.1:p.Lys4428Gln
XM_005250025.4:c.13330A>C	XP_005250082.1:p.Lys4444Gln
XM_005250026.3:c.13327A>C	XP_005250083.1:p.Lys4443Gln
XM_005250027.4:c.13327A>C	XP_005250084.1:p.Lys4443Gln
XM_005250028.4:c.13330A>C	XP_005250085.1:p.Lys4444Gln
XM_005250031.4:c.13165A>C	XP_005250088.1:p.Lys4389Gln
XM_006716077.3:c.13327A>C	XP_006716140.1:p.Lys4443Gln
XM_006716078.3:c.13258A>C	XP_006716141.1:p.Lys4420Gln
XM_006716079.3:c.13162A>C	XP_006716142.1:p.Lys4388Gln
XM_011516450.2:c.13282A>C	XP_011514752.1:p.Lys4428Gln
XM_011516451.2:c.13210A>C	XP_011514753.1:p.Lys4404Gln
XM_011516452.2:c.13177A>C	XP_011514754.1:p.Lys4393Gln
XM_011516453.2:c.13093A>C	XP_011514755.1:p.Lys4365Gln
XM_011516454.2:c.12415A>C	XP_011514756.1:p.Lys4139Gln
XM_011516456.2:c.13282A>C	XP_011514758.1:p.Lys4428Gln
XM_017012480.1:c.13330A>C	XP_016867969.1:p.Lys4444Gln
XM_017012481.1:c.13327A>C	XP_016867970.1:p.Lys4443Gln
XM_017012482.1:c.13327A>C	XP_016867971.1:p.Lys4443Gln
XM_017012483.1:c.13327A>C	XP_016867972.1:p.Lys4443Gln
XM_017012484.1:c.13297A>C	XP_016867973.1:p.Lys4433Gln
XM_017012485.1:c.13279A>C	XP_016867974.1:p.Lys4427Gln
XM_017012486.1:c.13255A>C	XP_016867975.1:p.Lys4419Gln
XM_017012487.1:c.13183A>C	XP_016867976.1:p.Lys4395Gln
XM_017012488.1:c.13147A>C	XP_016867977.1:p.Lys4383Gln
XM_017012489.1:c.10000A>C	XP_016867978.1:p.Lys3334Gln
XM_017012490.2:c.9604A>C	XP_016867979.1:p.Lys3202Gln
XM_024446852.1:c.13327A>C	XP_024302620.1:p.Lys4443Gln
XM_024446853.1:c.13255A>C	XP_024302621.1:p.Lys4419Gln
NM_170606.3:c.13114A>C MANE Select	NP_733751.2:p.Lys4372Gln