Canonical Allele Identifier: CA370093188
Gene: KMT2C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152148828G>C , CM000669.2:g.152148828G>C GRCh38
NC_000007.13:g.151845913G>C , CM000669.1:g.151845913G>C GRCh37
NC_000007.12:g.151476846G>C NCBI36
NG_033948.1:g.292178C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682040.1:c.1287C>G
ENST00000682116.1:n.2231C>G
ENST00000682283.1:c.13270C>G ENSP00000507485.1:p.Pro4424Ala
ENST00000682629.1:n.2399C>G
ENST00000683120.1:n.8291C>G
ENST00000683178.1:c.3672C>G
ENST00000683200.1:c.10609C>G ENSP00000508052.1:p.Pro3537Ala
ENST00000683337.1:n.4729C>G
ENST00000683502.1:c.3744C>G
ENST00000683621.1:n.1865C>G
ENST00000683640.1:n.1815C>G
ENST00000684069.1:c.1516C>G ENSP00000507650.1:p.Pro506Ala
ENST00000684261.1:c.7996C>G ENSP00000508097.1:p.Pro2666Ala
ENST00000684649.1:c.3744C>G
ENST00000262189.11:c.13099C>G MANE Select ENSP00000262189.6:p.Pro4367Ala
ENST00000360104.8:c.8886C>G
ENST00000418061.2:c.3741C>G
ENST00000424877.6:c.3675C>G
ENST00000679393.1:n.7810C>G
ENST00000679560.1:c.7999C>G ENSP00000505094.1:p.Pro2667Ala
ENST00000679882.1:c.12664C>G ENSP00000506154.1:p.Pro4222Ala
ENST00000680029.1:c.3676C>G
ENST00000680877.1:c.7999C>G ENSP00000505724.1:p.Pro2667Ala
ENST00000681923.1:n.2114C>G
ENST00000262189.10:c.13099C>G ENSP00000262189.6:p.Pro4367Ala
ENST00000355193.6:c.13099C>G ENSP00000347325.3:p.Pro4367Ala
ENST00000360104.7:c.5780C>G
ENST00000424877.5:c.2950C>G ENSP00000410411.1:p.Pro984Ala
ENST00000473186.5:n.10981C>G
ENST00000558084.5:c.*10619C>G ENSP00000453752.1:n.*10619C>G
NM_170606.2:c.13099C>G NP_733751.2:p.Pro4367Ala
XM_005250025.3:c.13315C>G XP_005250082.1:p.Pro4439Ala
XM_005250026.2:c.13312C>G XP_005250083.1:p.Pro4438Ala
XM_005250027.3:c.13312C>G XP_005250084.1:p.Pro4438Ala
XM_005250028.3:c.13315C>G XP_005250085.1:p.Pro4439Ala
XM_005250031.3:c.13150C>G XP_005250088.1:p.Pro4384Ala
XM_006716077.2:c.13312C>G XP_006716140.1:p.Pro4438Ala
XM_006716078.2:c.13243C>G XP_006716141.1:p.Pro4415Ala
XM_006716079.2:c.13147C>G XP_006716142.1:p.Pro4383Ala
XM_011516450.1:c.13267C>G XP_011514752.1:p.Pro4423Ala
XM_011516451.1:c.13195C>G XP_011514753.1:p.Pro4399Ala
XM_011516452.1:c.13162C>G XP_011514754.1:p.Pro4388Ala
XM_011516453.1:c.13078C>G XP_011514755.1:p.Pro4360Ala
XM_011516454.1:c.12400C>G XP_011514756.1:p.Pro4134Ala
XM_011516455.1:c.10861C>G XP_011514757.1:p.Pro3621Ala
XM_011516456.1:c.13267C>G XP_011514758.1:p.Pro4423Ala
XM_005250025.4:c.13315C>G XP_005250082.1:p.Pro4439Ala
XM_005250026.3:c.13312C>G XP_005250083.1:p.Pro4438Ala
XM_005250027.4:c.13312C>G XP_005250084.1:p.Pro4438Ala
XM_005250028.4:c.13315C>G XP_005250085.1:p.Pro4439Ala
XM_005250031.4:c.13150C>G XP_005250088.1:p.Pro4384Ala
XM_006716077.3:c.13312C>G XP_006716140.1:p.Pro4438Ala
XM_006716078.3:c.13243C>G XP_006716141.1:p.Pro4415Ala
XM_006716079.3:c.13147C>G XP_006716142.1:p.Pro4383Ala
XM_011516450.2:c.13267C>G XP_011514752.1:p.Pro4423Ala
XM_011516451.2:c.13195C>G XP_011514753.1:p.Pro4399Ala
XM_011516452.2:c.13162C>G XP_011514754.1:p.Pro4388Ala
XM_011516453.2:c.13078C>G XP_011514755.1:p.Pro4360Ala
XM_011516454.2:c.12400C>G XP_011514756.1:p.Pro4134Ala
XM_011516456.2:c.13267C>G XP_011514758.1:p.Pro4423Ala
XM_017012480.1:c.13315C>G XP_016867969.1:p.Pro4439Ala
XM_017012481.1:c.13312C>G XP_016867970.1:p.Pro4438Ala
XM_017012482.1:c.13312C>G XP_016867971.1:p.Pro4438Ala
XM_017012483.1:c.13312C>G XP_016867972.1:p.Pro4438Ala
XM_017012484.1:c.13282C>G XP_016867973.1:p.Pro4428Ala
XM_017012485.1:c.13264C>G XP_016867974.1:p.Pro4422Ala
XM_017012486.1:c.13240C>G XP_016867975.1:p.Pro4414Ala
XM_017012487.1:c.13168C>G XP_016867976.1:p.Pro4390Ala
XM_017012488.1:c.13132C>G XP_016867977.1:p.Pro4378Ala
XM_017012489.1:c.9985C>G XP_016867978.1:p.Pro3329Ala
XM_017012490.2:c.9589C>G XP_016867979.1:p.Pro3197Ala
XM_024446852.1:c.13312C>G XP_024302620.1:p.Pro4438Ala
XM_024446853.1:c.13240C>G XP_024302621.1:p.Pro4414Ala
NM_170606.3:c.13099C>G MANE Select NP_733751.2:p.Pro4367Ala