Canonical Allele Identifier: CA370091852

Gene: KMT2C

Linked Data

• dbSNP Id: rs2129095492
• MyVariant Identifiers: chr7:g.151845769C>A (hg19) ; chr7:g.152148684C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148684C>A , CM000669.2:g.152148684C>A	GRCh38
NC_000007.13:g.151845769C>A , CM000669.1:g.151845769C>A	GRCh37
NC_000007.12:g.151476702C>A	NCBI36
NG_033948.1:g.292322G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682040.1:c.1431G>T
ENST00000682116.1:n.2375G>T
ENST00000682283.1:c.13414G>T	ENSP00000507485.1:p.Gly4472Ter
ENST00000682629.1:n.2543G>T
ENST00000683120.1:n.8435G>T
ENST00000683178.1:c.3816G>T
ENST00000683200.1:c.10753G>T	ENSP00000508052.1:p.Gly3585Ter
ENST00000683337.1:n.4873G>T
ENST00000683502.1:c.3888G>T
ENST00000683621.1:n.2009G>T
ENST00000683640.1:n.1959G>T
ENST00000684069.1:c.1660G>T	ENSP00000507650.1:p.Gly554Ter
ENST00000684261.1:c.8140G>T	ENSP00000508097.1:p.Gly2714Ter
ENST00000684391.1:n.1G>T
ENST00000684649.1:c.3888G>T
ENST00000262189.11:c.13243G>T MANE Select	ENSP00000262189.6:p.Gly4415Ter
ENST00000360104.8:c.9030G>T
ENST00000418061.2:c.3885G>T
ENST00000424877.6:c.3819G>T
ENST00000679393.1:n.7954G>T
ENST00000679560.1:c.8143G>T	ENSP00000505094.1:p.Gly2715Ter
ENST00000679882.1:c.12808G>T	ENSP00000506154.1:p.Gly4270Ter
ENST00000680029.1:c.3820G>T
ENST00000680877.1:c.8143G>T	ENSP00000505724.1:p.Gly2715Ter
ENST00000681923.1:n.2258G>T
ENST00000262189.10:c.13243G>T	ENSP00000262189.6:p.Gly4415Ter
ENST00000355193.6:c.13243G>T	ENSP00000347325.3:p.Gly4415Ter
ENST00000360104.7:c.5924G>T
ENST00000424877.5:c.3094G>T	ENSP00000410411.1:p.Gly1032Ter
ENST00000473186.5:n.11125G>T
ENST00000558084.5:c.*10763G>T	ENSP00000453752.1:n.*10763G>T
NM_170606.2:c.13243G>T	NP_733751.2:p.Gly4415Ter
XM_005250025.3:c.13459G>T	XP_005250082.1:p.Gly4487Ter
XM_005250026.2:c.13456G>T	XP_005250083.1:p.Gly4486Ter
XM_005250027.3:c.13456G>T	XP_005250084.1:p.Gly4486Ter
XM_005250028.3:c.13459G>T	XP_005250085.1:p.Gly4487Ter
XM_005250031.3:c.13294G>T	XP_005250088.1:p.Gly4432Ter
XM_006716077.2:c.13456G>T	XP_006716140.1:p.Gly4486Ter
XM_006716078.2:c.13387G>T	XP_006716141.1:p.Gly4463Ter
XM_006716079.2:c.13291G>T	XP_006716142.1:p.Gly4431Ter
XM_011516450.1:c.13411G>T	XP_011514752.1:p.Gly4471Ter
XM_011516451.1:c.13339G>T	XP_011514753.1:p.Gly4447Ter
XM_011516452.1:c.13306G>T	XP_011514754.1:p.Gly4436Ter
XM_011516453.1:c.13222G>T	XP_011514755.1:p.Gly4408Ter
XM_011516454.1:c.12544G>T	XP_011514756.1:p.Gly4182Ter
XM_011516455.1:c.11005G>T	XP_011514757.1:p.Gly3669Ter
XM_011516456.1:c.13411G>T	XP_011514758.1:p.Gly4471Ter
XM_005250025.4:c.13459G>T	XP_005250082.1:p.Gly4487Ter
XM_005250026.3:c.13456G>T	XP_005250083.1:p.Gly4486Ter
XM_005250027.4:c.13456G>T	XP_005250084.1:p.Gly4486Ter
XM_005250028.4:c.13459G>T	XP_005250085.1:p.Gly4487Ter
XM_005250031.4:c.13294G>T	XP_005250088.1:p.Gly4432Ter
XM_006716077.3:c.13456G>T	XP_006716140.1:p.Gly4486Ter
XM_006716078.3:c.13387G>T	XP_006716141.1:p.Gly4463Ter
XM_006716079.3:c.13291G>T	XP_006716142.1:p.Gly4431Ter
XM_011516450.2:c.13411G>T	XP_011514752.1:p.Gly4471Ter
XM_011516451.2:c.13339G>T	XP_011514753.1:p.Gly4447Ter
XM_011516452.2:c.13306G>T	XP_011514754.1:p.Gly4436Ter
XM_011516453.2:c.13222G>T	XP_011514755.1:p.Gly4408Ter
XM_011516454.2:c.12544G>T	XP_011514756.1:p.Gly4182Ter
XM_011516456.2:c.13411G>T	XP_011514758.1:p.Gly4471Ter
XM_017012480.1:c.13459G>T	XP_016867969.1:p.Gly4487Ter
XM_017012481.1:c.13456G>T	XP_016867970.1:p.Gly4486Ter
XM_017012482.1:c.13456G>T	XP_016867971.1:p.Gly4486Ter
XM_017012483.1:c.13456G>T	XP_016867972.1:p.Gly4486Ter
XM_017012484.1:c.13426G>T	XP_016867973.1:p.Gly4476Ter
XM_017012485.1:c.13408G>T	XP_016867974.1:p.Gly4470Ter
XM_017012486.1:c.13384G>T	XP_016867975.1:p.Gly4462Ter
XM_017012487.1:c.13312G>T	XP_016867976.1:p.Gly4438Ter
XM_017012488.1:c.13276G>T	XP_016867977.1:p.Gly4426Ter
XM_017012489.1:c.10129G>T	XP_016867978.1:p.Gly3377Ter
XM_017012490.2:c.9733G>T	XP_016867979.1:p.Gly3245Ter
XM_024446852.1:c.13456G>T	XP_024302620.1:p.Gly4486Ter
XM_024446853.1:c.13384G>T	XP_024302621.1:p.Gly4462Ter
NM_170606.3:c.13243G>T MANE Select	NP_733751.2:p.Gly4415Ter