Canonical Allele Identifier: CA16618420
Gene: KMT2C HGNC NCBI

Linked Data

ClinVar Variation Id: 422409
ClinVar RCV Id: RCV000485541
dbSNP Id: rs1064795761

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152148773T>A , CM000669.2:g.152148773T>A GRCh38
NC_000007.13:g.151845858T>A , CM000669.1:g.151845858T>A GRCh37
NC_000007.12:g.151476791T>A NCBI36
NG_033948.1:g.292233A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682040.1:c.1342A>T
ENST00000682116.1:n.2286A>T
ENST00000682283.1:c.13325A>T ENSP00000507485.1:p.Lys4442Ile
ENST00000682629.1:n.2454A>T
ENST00000683120.1:n.8346A>T
ENST00000683178.1:c.3727A>T
ENST00000683200.1:c.10664A>T ENSP00000508052.1:p.Lys3555Ile
ENST00000683337.1:n.4784A>T
ENST00000683502.1:c.3799A>T
ENST00000683621.1:n.1920A>T
ENST00000683640.1:n.1870A>T
ENST00000684069.1:c.1571A>T ENSP00000507650.1:p.Lys524Ile
ENST00000684261.1:c.8051A>T ENSP00000508097.1:p.Lys2684Ile
ENST00000684649.1:c.3799A>T
ENST00000262189.11:c.13154A>T MANE Select ENSP00000262189.6:p.Lys4385Ile
ENST00000360104.8:c.8941A>T
ENST00000418061.2:c.3796A>T
ENST00000424877.6:c.3730A>T
ENST00000679393.1:n.7865A>T
ENST00000679560.1:c.8054A>T ENSP00000505094.1:p.Lys2685Ile
ENST00000679882.1:c.12719A>T ENSP00000506154.1:p.Lys4240Ile
ENST00000680029.1:c.3731A>T
ENST00000680877.1:c.8054A>T ENSP00000505724.1:p.Lys2685Ile
ENST00000681923.1:n.2169A>T
ENST00000262189.10:c.13154A>T ENSP00000262189.6:p.Lys4385Ile
ENST00000355193.6:c.13154A>T ENSP00000347325.3:p.Lys4385Ile
ENST00000360104.7:c.5835A>T
ENST00000424877.5:c.3005A>T ENSP00000410411.1:p.Lys1002Ile
ENST00000473186.5:n.11036A>T
ENST00000558084.5:c.*10674A>T ENSP00000453752.1:n.*10674A>T
NM_170606.2:c.13154A>T NP_733751.2:p.Lys4385Ile
XM_005250025.3:c.13370A>T XP_005250082.1:p.Lys4457Ile
XM_005250026.2:c.13367A>T XP_005250083.1:p.Lys4456Ile
XM_005250027.3:c.13367A>T XP_005250084.1:p.Lys4456Ile
XM_005250028.3:c.13370A>T XP_005250085.1:p.Lys4457Ile
XM_005250031.3:c.13205A>T XP_005250088.1:p.Lys4402Ile
XM_006716077.2:c.13367A>T XP_006716140.1:p.Lys4456Ile
XM_006716078.2:c.13298A>T XP_006716141.1:p.Lys4433Ile
XM_006716079.2:c.13202A>T XP_006716142.1:p.Lys4401Ile
XM_011516450.1:c.13322A>T XP_011514752.1:p.Lys4441Ile
XM_011516451.1:c.13250A>T XP_011514753.1:p.Lys4417Ile
XM_011516452.1:c.13217A>T XP_011514754.1:p.Lys4406Ile
XM_011516453.1:c.13133A>T XP_011514755.1:p.Lys4378Ile
XM_011516454.1:c.12455A>T XP_011514756.1:p.Lys4152Ile
XM_011516455.1:c.10916A>T XP_011514757.1:p.Lys3639Ile
XM_011516456.1:c.13322A>T XP_011514758.1:p.Lys4441Ile
XM_005250025.4:c.13370A>T XP_005250082.1:p.Lys4457Ile
XM_005250026.3:c.13367A>T XP_005250083.1:p.Lys4456Ile
XM_005250027.4:c.13367A>T XP_005250084.1:p.Lys4456Ile
XM_005250028.4:c.13370A>T XP_005250085.1:p.Lys4457Ile
XM_005250031.4:c.13205A>T XP_005250088.1:p.Lys4402Ile
XM_006716077.3:c.13367A>T XP_006716140.1:p.Lys4456Ile
XM_006716078.3:c.13298A>T XP_006716141.1:p.Lys4433Ile
XM_006716079.3:c.13202A>T XP_006716142.1:p.Lys4401Ile
XM_011516450.2:c.13322A>T XP_011514752.1:p.Lys4441Ile
XM_011516451.2:c.13250A>T XP_011514753.1:p.Lys4417Ile
XM_011516452.2:c.13217A>T XP_011514754.1:p.Lys4406Ile
XM_011516453.2:c.13133A>T XP_011514755.1:p.Lys4378Ile
XM_011516454.2:c.12455A>T XP_011514756.1:p.Lys4152Ile
XM_011516456.2:c.13322A>T XP_011514758.1:p.Lys4441Ile
XM_017012480.1:c.13370A>T XP_016867969.1:p.Lys4457Ile
XM_017012481.1:c.13367A>T XP_016867970.1:p.Lys4456Ile
XM_017012482.1:c.13367A>T XP_016867971.1:p.Lys4456Ile
XM_017012483.1:c.13367A>T XP_016867972.1:p.Lys4456Ile
XM_017012484.1:c.13337A>T XP_016867973.1:p.Lys4446Ile
XM_017012485.1:c.13319A>T XP_016867974.1:p.Lys4440Ile
XM_017012486.1:c.13295A>T XP_016867975.1:p.Lys4432Ile
XM_017012487.1:c.13223A>T XP_016867976.1:p.Lys4408Ile
XM_017012488.1:c.13187A>T XP_016867977.1:p.Lys4396Ile
XM_017012489.1:c.10040A>T XP_016867978.1:p.Lys3347Ile
XM_017012490.2:c.9644A>T XP_016867979.1:p.Lys3215Ile
XM_024446852.1:c.13367A>T XP_024302620.1:p.Lys4456Ile
XM_024446853.1:c.13295A>T XP_024302621.1:p.Lys4432Ile
NM_170606.3:c.13154A>T MANE Select NP_733751.2:p.Lys4385Ile