Canonical Allele Identifier: CA370093286

Gene: KMT2C

Linked Data

• dbSNP Id: rs2129095572
• COSMIC: COSM85091
• MyVariant Identifiers: chr7:g.151845941C>T (hg19) ; chr7:g.152148856C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148856C>T , CM000669.2:g.152148856C>T	GRCh38
NC_000007.13:g.151845941C>T , CM000669.1:g.151845941C>T	GRCh37
NC_000007.12:g.151476874C>T	NCBI36
NG_033948.1:g.292150G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1259G>A
ENST00000682116.1:n.2203G>A
ENST00000682283.1:c.13242G>A	ENSP00000507485.1:p.Trp4414Ter
ENST00000682629.1:n.2371G>A
ENST00000683120.1:n.8263G>A
ENST00000683178.1:c.3644G>A
ENST00000683200.1:c.10581G>A	ENSP00000508052.1:p.Trp3527Ter
ENST00000683337.1:n.4701G>A
ENST00000683502.1:c.3716G>A
ENST00000683621.1:n.1837G>A
ENST00000683640.1:n.1787G>A
ENST00000684069.1:c.1488G>A	ENSP00000507650.1:p.Trp496Ter
ENST00000684261.1:c.7968G>A	ENSP00000508097.1:p.Trp2656Ter
ENST00000684649.1:c.3716G>A
ENST00000262189.11:c.13071G>A MANE Select	ENSP00000262189.6:p.Trp4357Ter
ENST00000360104.8:c.8858G>A
ENST00000418061.2:c.3713G>A
ENST00000424877.6:c.3647G>A
ENST00000679393.1:n.7782G>A
ENST00000679560.1:c.7971G>A	ENSP00000505094.1:p.Trp2657Ter
ENST00000679882.1:c.12636G>A	ENSP00000506154.1:p.Trp4212Ter
ENST00000680029.1:c.3648G>A
ENST00000680877.1:c.7971G>A	ENSP00000505724.1:p.Trp2657Ter
ENST00000681923.1:n.2086G>A
ENST00000262189.10:c.13071G>A	ENSP00000262189.6:p.Trp4357Ter
ENST00000355193.6:c.13071G>A	ENSP00000347325.3:p.Trp4357Ter
ENST00000360104.7:c.5752G>A
ENST00000424877.5:c.2922G>A	ENSP00000410411.1:p.Trp974Ter
ENST00000473186.5:n.10953G>A
ENST00000558084.5:c.*10591G>A	ENSP00000453752.1:n.*10591G>A
NM_170606.2:c.13071G>A	NP_733751.2:p.Trp4357Ter
XM_005250025.3:c.13287G>A	XP_005250082.1:p.Trp4429Ter
XM_005250026.2:c.13284G>A	XP_005250083.1:p.Trp4428Ter
XM_005250027.3:c.13284G>A	XP_005250084.1:p.Trp4428Ter
XM_005250028.3:c.13287G>A	XP_005250085.1:p.Trp4429Ter
XM_005250031.3:c.13122G>A	XP_005250088.1:p.Trp4374Ter
XM_006716077.2:c.13284G>A	XP_006716140.1:p.Trp4428Ter
XM_006716078.2:c.13215G>A	XP_006716141.1:p.Trp4405Ter
XM_006716079.2:c.13119G>A	XP_006716142.1:p.Trp4373Ter
XM_011516450.1:c.13239G>A	XP_011514752.1:p.Trp4413Ter
XM_011516451.1:c.13167G>A	XP_011514753.1:p.Trp4389Ter
XM_011516452.1:c.13134G>A	XP_011514754.1:p.Trp4378Ter
XM_011516453.1:c.13050G>A	XP_011514755.1:p.Trp4350Ter
XM_011516454.1:c.12372G>A	XP_011514756.1:p.Trp4124Ter
XM_011516455.1:c.10833G>A	XP_011514757.1:p.Trp3611Ter
XM_011516456.1:c.13239G>A	XP_011514758.1:p.Trp4413Ter
XM_005250025.4:c.13287G>A	XP_005250082.1:p.Trp4429Ter
XM_005250026.3:c.13284G>A	XP_005250083.1:p.Trp4428Ter
XM_005250027.4:c.13284G>A	XP_005250084.1:p.Trp4428Ter
XM_005250028.4:c.13287G>A	XP_005250085.1:p.Trp4429Ter
XM_005250031.4:c.13122G>A	XP_005250088.1:p.Trp4374Ter
XM_006716077.3:c.13284G>A	XP_006716140.1:p.Trp4428Ter
XM_006716078.3:c.13215G>A	XP_006716141.1:p.Trp4405Ter
XM_006716079.3:c.13119G>A	XP_006716142.1:p.Trp4373Ter
XM_011516450.2:c.13239G>A	XP_011514752.1:p.Trp4413Ter
XM_011516451.2:c.13167G>A	XP_011514753.1:p.Trp4389Ter
XM_011516452.2:c.13134G>A	XP_011514754.1:p.Trp4378Ter
XM_011516453.2:c.13050G>A	XP_011514755.1:p.Trp4350Ter
XM_011516454.2:c.12372G>A	XP_011514756.1:p.Trp4124Ter
XM_011516456.2:c.13239G>A	XP_011514758.1:p.Trp4413Ter
XM_017012480.1:c.13287G>A	XP_016867969.1:p.Trp4429Ter
XM_017012481.1:c.13284G>A	XP_016867970.1:p.Trp4428Ter
XM_017012482.1:c.13284G>A	XP_016867971.1:p.Trp4428Ter
XM_017012483.1:c.13284G>A	XP_016867972.1:p.Trp4428Ter
XM_017012484.1:c.13254G>A	XP_016867973.1:p.Trp4418Ter
XM_017012485.1:c.13236G>A	XP_016867974.1:p.Trp4412Ter
XM_017012486.1:c.13212G>A	XP_016867975.1:p.Trp4404Ter
XM_017012487.1:c.13140G>A	XP_016867976.1:p.Trp4380Ter
XM_017012488.1:c.13104G>A	XP_016867977.1:p.Trp4368Ter
XM_017012489.1:c.9957G>A	XP_016867978.1:p.Trp3319Ter
XM_017012490.2:c.9561G>A	XP_016867979.1:p.Trp3187Ter
XM_024446852.1:c.13284G>A	XP_024302620.1:p.Trp4428Ter
XM_024446853.1:c.13212G>A	XP_024302621.1:p.Trp4404Ter
NM_170606.3:c.13071G>A MANE Select	NP_733751.2:p.Trp4357Ter