Canonical Allele Identifier: CA370091888

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151845777A>T (hg19) ; chr7:g.152148692A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148692A>T , CM000669.2:g.152148692A>T	GRCh38
NC_000007.13:g.151845777A>T , CM000669.1:g.151845777A>T	GRCh37
NC_000007.12:g.151476710A>T	NCBI36
NG_033948.1:g.292314T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1423T>A
ENST00000682116.1:n.2367T>A
ENST00000682283.1:c.13406T>A	ENSP00000507485.1:p.Leu4469Ter
ENST00000682629.1:n.2535T>A
ENST00000683120.1:n.8427T>A
ENST00000683178.1:c.3808T>A
ENST00000683200.1:c.10745T>A	ENSP00000508052.1:p.Leu3582Ter
ENST00000683337.1:n.4865T>A
ENST00000683502.1:c.3880T>A
ENST00000683621.1:n.2001T>A
ENST00000683640.1:n.1951T>A
ENST00000684069.1:c.1652T>A	ENSP00000507650.1:p.Leu551Ter
ENST00000684261.1:c.8132T>A	ENSP00000508097.1:p.Leu2711Ter
ENST00000684649.1:c.3880T>A
ENST00000262189.11:c.13235T>A MANE Select	ENSP00000262189.6:p.Leu4412Ter
ENST00000360104.8:c.9022T>A
ENST00000418061.2:c.3877T>A
ENST00000424877.6:c.3811T>A
ENST00000679393.1:n.7946T>A
ENST00000679560.1:c.8135T>A	ENSP00000505094.1:p.Leu2712Ter
ENST00000679882.1:c.12800T>A	ENSP00000506154.1:p.Leu4267Ter
ENST00000680029.1:c.3812T>A
ENST00000680877.1:c.8135T>A	ENSP00000505724.1:p.Leu2712Ter
ENST00000681923.1:n.2250T>A
ENST00000262189.10:c.13235T>A	ENSP00000262189.6:p.Leu4412Ter
ENST00000355193.6:c.13235T>A	ENSP00000347325.3:p.Leu4412Ter
ENST00000360104.7:c.5916T>A
ENST00000424877.5:c.3086T>A	ENSP00000410411.1:p.Leu1029Ter
ENST00000473186.5:n.11117T>A
ENST00000558084.5:c.*10755T>A	ENSP00000453752.1:n.*10755T>A
NM_170606.2:c.13235T>A	NP_733751.2:p.Leu4412Ter
XM_005250025.3:c.13451T>A	XP_005250082.1:p.Leu4484Ter
XM_005250026.2:c.13448T>A	XP_005250083.1:p.Leu4483Ter
XM_005250027.3:c.13448T>A	XP_005250084.1:p.Leu4483Ter
XM_005250028.3:c.13451T>A	XP_005250085.1:p.Leu4484Ter
XM_005250031.3:c.13286T>A	XP_005250088.1:p.Leu4429Ter
XM_006716077.2:c.13448T>A	XP_006716140.1:p.Leu4483Ter
XM_006716078.2:c.13379T>A	XP_006716141.1:p.Leu4460Ter
XM_006716079.2:c.13283T>A	XP_006716142.1:p.Leu4428Ter
XM_011516450.1:c.13403T>A	XP_011514752.1:p.Leu4468Ter
XM_011516451.1:c.13331T>A	XP_011514753.1:p.Leu4444Ter
XM_011516452.1:c.13298T>A	XP_011514754.1:p.Leu4433Ter
XM_011516453.1:c.13214T>A	XP_011514755.1:p.Leu4405Ter
XM_011516454.1:c.12536T>A	XP_011514756.1:p.Leu4179Ter
XM_011516455.1:c.10997T>A	XP_011514757.1:p.Leu3666Ter
XM_011516456.1:c.13403T>A	XP_011514758.1:p.Leu4468Ter
XM_005250025.4:c.13451T>A	XP_005250082.1:p.Leu4484Ter
XM_005250026.3:c.13448T>A	XP_005250083.1:p.Leu4483Ter
XM_005250027.4:c.13448T>A	XP_005250084.1:p.Leu4483Ter
XM_005250028.4:c.13451T>A	XP_005250085.1:p.Leu4484Ter
XM_005250031.4:c.13286T>A	XP_005250088.1:p.Leu4429Ter
XM_006716077.3:c.13448T>A	XP_006716140.1:p.Leu4483Ter
XM_006716078.3:c.13379T>A	XP_006716141.1:p.Leu4460Ter
XM_006716079.3:c.13283T>A	XP_006716142.1:p.Leu4428Ter
XM_011516450.2:c.13403T>A	XP_011514752.1:p.Leu4468Ter
XM_011516451.2:c.13331T>A	XP_011514753.1:p.Leu4444Ter
XM_011516452.2:c.13298T>A	XP_011514754.1:p.Leu4433Ter
XM_011516453.2:c.13214T>A	XP_011514755.1:p.Leu4405Ter
XM_011516454.2:c.12536T>A	XP_011514756.1:p.Leu4179Ter
XM_011516456.2:c.13403T>A	XP_011514758.1:p.Leu4468Ter
XM_017012480.1:c.13451T>A	XP_016867969.1:p.Leu4484Ter
XM_017012481.1:c.13448T>A	XP_016867970.1:p.Leu4483Ter
XM_017012482.1:c.13448T>A	XP_016867971.1:p.Leu4483Ter
XM_017012483.1:c.13448T>A	XP_016867972.1:p.Leu4483Ter
XM_017012484.1:c.13418T>A	XP_016867973.1:p.Leu4473Ter
XM_017012485.1:c.13400T>A	XP_016867974.1:p.Leu4467Ter
XM_017012486.1:c.13376T>A	XP_016867975.1:p.Leu4459Ter
XM_017012487.1:c.13304T>A	XP_016867976.1:p.Leu4435Ter
XM_017012488.1:c.13268T>A	XP_016867977.1:p.Leu4423Ter
XM_017012489.1:c.10121T>A	XP_016867978.1:p.Leu3374Ter
XM_017012490.2:c.9725T>A	XP_016867979.1:p.Leu3242Ter
XM_024446852.1:c.13448T>A	XP_024302620.1:p.Leu4483Ter
XM_024446853.1:c.13376T>A	XP_024302621.1:p.Leu4459Ter
NM_170606.3:c.13235T>A MANE Select	NP_733751.2:p.Leu4412Ter