Canonical Allele Identifier: CA370093383
Gene: KMT2C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152148882T>G , CM000669.2:g.152148882T>G GRCh38
NC_000007.13:g.151845967T>G , CM000669.1:g.151845967T>G GRCh37
NC_000007.12:g.151476900T>G NCBI36
NG_033948.1:g.292124A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682040.1:c.1233A>C
ENST00000682116.1:n.2177A>C
ENST00000682283.1:c.13216A>C ENSP00000507485.1:p.Asn4406His
ENST00000682629.1:n.2345A>C
ENST00000683120.1:n.8237A>C
ENST00000683178.1:c.3618A>C
ENST00000683200.1:c.10555A>C ENSP00000508052.1:p.Asn3519His
ENST00000683337.1:n.4675A>C
ENST00000683502.1:c.3690A>C
ENST00000683621.1:n.1811A>C
ENST00000683640.1:n.1761A>C
ENST00000684069.1:c.1462A>C ENSP00000507650.1:p.Asn488His
ENST00000684261.1:c.7942A>C ENSP00000508097.1:p.Asn2648His
ENST00000684649.1:c.3690A>C
ENST00000262189.11:c.13045A>C MANE Select ENSP00000262189.6:p.Asn4349His
ENST00000360104.8:c.8832A>C
ENST00000418061.2:c.3687A>C
ENST00000424877.6:c.3621A>C
ENST00000679393.1:n.7756A>C
ENST00000679560.1:c.7945A>C ENSP00000505094.1:p.Asn2649His
ENST00000679882.1:c.12610A>C ENSP00000506154.1:p.Asn4204His
ENST00000680029.1:c.3622A>C
ENST00000680877.1:c.7945A>C ENSP00000505724.1:p.Asn2649His
ENST00000681923.1:n.2060A>C
ENST00000262189.10:c.13045A>C ENSP00000262189.6:p.Asn4349His
ENST00000355193.6:c.13045A>C ENSP00000347325.3:p.Asn4349His
ENST00000360104.7:c.5726A>C
ENST00000424877.5:c.2896A>C ENSP00000410411.1:p.Asn966His
ENST00000473186.5:n.10927A>C
ENST00000558084.5:c.*10565A>C ENSP00000453752.1:n.*10565A>C
NM_170606.2:c.13045A>C NP_733751.2:p.Asn4349His
XM_005250025.3:c.13261A>C XP_005250082.1:p.Asn4421His
XM_005250026.2:c.13258A>C XP_005250083.1:p.Asn4420His
XM_005250027.3:c.13258A>C XP_005250084.1:p.Asn4420His
XM_005250028.3:c.13261A>C XP_005250085.1:p.Asn4421His
XM_005250031.3:c.13096A>C XP_005250088.1:p.Asn4366His
XM_006716077.2:c.13258A>C XP_006716140.1:p.Asn4420His
XM_006716078.2:c.13189A>C XP_006716141.1:p.Asn4397His
XM_006716079.2:c.13093A>C XP_006716142.1:p.Asn4365His
XM_011516450.1:c.13213A>C XP_011514752.1:p.Asn4405His
XM_011516451.1:c.13141A>C XP_011514753.1:p.Asn4381His
XM_011516452.1:c.13108A>C XP_011514754.1:p.Asn4370His
XM_011516453.1:c.13024A>C XP_011514755.1:p.Asn4342His
XM_011516454.1:c.12346A>C XP_011514756.1:p.Asn4116His
XM_011516455.1:c.10807A>C XP_011514757.1:p.Asn3603His
XM_011516456.1:c.13213A>C XP_011514758.1:p.Asn4405His
XM_005250025.4:c.13261A>C XP_005250082.1:p.Asn4421His
XM_005250026.3:c.13258A>C XP_005250083.1:p.Asn4420His
XM_005250027.4:c.13258A>C XP_005250084.1:p.Asn4420His
XM_005250028.4:c.13261A>C XP_005250085.1:p.Asn4421His
XM_005250031.4:c.13096A>C XP_005250088.1:p.Asn4366His
XM_006716077.3:c.13258A>C XP_006716140.1:p.Asn4420His
XM_006716078.3:c.13189A>C XP_006716141.1:p.Asn4397His
XM_006716079.3:c.13093A>C XP_006716142.1:p.Asn4365His
XM_011516450.2:c.13213A>C XP_011514752.1:p.Asn4405His
XM_011516451.2:c.13141A>C XP_011514753.1:p.Asn4381His
XM_011516452.2:c.13108A>C XP_011514754.1:p.Asn4370His
XM_011516453.2:c.13024A>C XP_011514755.1:p.Asn4342His
XM_011516454.2:c.12346A>C XP_011514756.1:p.Asn4116His
XM_011516456.2:c.13213A>C XP_011514758.1:p.Asn4405His
XM_017012480.1:c.13261A>C XP_016867969.1:p.Asn4421His
XM_017012481.1:c.13258A>C XP_016867970.1:p.Asn4420His
XM_017012482.1:c.13258A>C XP_016867971.1:p.Asn4420His
XM_017012483.1:c.13258A>C XP_016867972.1:p.Asn4420His
XM_017012484.1:c.13228A>C XP_016867973.1:p.Asn4410His
XM_017012485.1:c.13210A>C XP_016867974.1:p.Asn4404His
XM_017012486.1:c.13186A>C XP_016867975.1:p.Asn4396His
XM_017012487.1:c.13114A>C XP_016867976.1:p.Asn4372His
XM_017012488.1:c.13078A>C XP_016867977.1:p.Asn4360His
XM_017012489.1:c.9931A>C XP_016867978.1:p.Asn3311His
XM_017012490.2:c.9535A>C XP_016867979.1:p.Asn3179His
XM_024446852.1:c.13258A>C XP_024302620.1:p.Asn4420His
XM_024446853.1:c.13186A>C XP_024302621.1:p.Asn4396His
NM_170606.3:c.13045A>C MANE Select NP_733751.2:p.Asn4349His