Canonical Allele Identifier: CA370093142

Gene: KMT2C

Linked Data

• gnomAD v4: 7-152148814-A-C
• MyVariant Identifiers: chr7:g.151845899A>C (hg19) ; chr7:g.152148814A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148814A>C , CM000669.2:g.152148814A>C	GRCh38
NC_000007.13:g.151845899A>C , CM000669.1:g.151845899A>C	GRCh37
NC_000007.12:g.151476832A>C	NCBI36
NG_033948.1:g.292192T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1301T>G
ENST00000682116.1:n.2245T>G
ENST00000682283.1:c.13284T>G	ENSP00000507485.1:p.Phe4428Leu
ENST00000682629.1:n.2413T>G
ENST00000683120.1:n.8305T>G
ENST00000683178.1:c.3686T>G
ENST00000683200.1:c.10623T>G	ENSP00000508052.1:p.Phe3541Leu
ENST00000683337.1:n.4743T>G
ENST00000683502.1:c.3758T>G
ENST00000683621.1:n.1879T>G
ENST00000683640.1:n.1829T>G
ENST00000684069.1:c.1530T>G	ENSP00000507650.1:p.Phe510Leu
ENST00000684261.1:c.8010T>G	ENSP00000508097.1:p.Phe2670Leu
ENST00000684649.1:c.3758T>G
ENST00000262189.11:c.13113T>G MANE Select	ENSP00000262189.6:p.Phe4371Leu
ENST00000360104.8:c.8900T>G
ENST00000418061.2:c.3755T>G
ENST00000424877.6:c.3689T>G
ENST00000679393.1:n.7824T>G
ENST00000679560.1:c.8013T>G	ENSP00000505094.1:p.Phe2671Leu
ENST00000679882.1:c.12678T>G	ENSP00000506154.1:p.Phe4226Leu
ENST00000680029.1:c.3690T>G
ENST00000680877.1:c.8013T>G	ENSP00000505724.1:p.Phe2671Leu
ENST00000681923.1:n.2128T>G
ENST00000262189.10:c.13113T>G	ENSP00000262189.6:p.Phe4371Leu
ENST00000355193.6:c.13113T>G	ENSP00000347325.3:p.Phe4371Leu
ENST00000360104.7:c.5794T>G
ENST00000424877.5:c.2964T>G	ENSP00000410411.1:p.Phe988Leu
ENST00000473186.5:n.10995T>G
ENST00000558084.5:c.*10633T>G	ENSP00000453752.1:n.*10633T>G
NM_170606.2:c.13113T>G	NP_733751.2:p.Phe4371Leu
XM_005250025.3:c.13329T>G	XP_005250082.1:p.Phe4443Leu
XM_005250026.2:c.13326T>G	XP_005250083.1:p.Phe4442Leu
XM_005250027.3:c.13326T>G	XP_005250084.1:p.Phe4442Leu
XM_005250028.3:c.13329T>G	XP_005250085.1:p.Phe4443Leu
XM_005250031.3:c.13164T>G	XP_005250088.1:p.Phe4388Leu
XM_006716077.2:c.13326T>G	XP_006716140.1:p.Phe4442Leu
XM_006716078.2:c.13257T>G	XP_006716141.1:p.Phe4419Leu
XM_006716079.2:c.13161T>G	XP_006716142.1:p.Phe4387Leu
XM_011516450.1:c.13281T>G	XP_011514752.1:p.Phe4427Leu
XM_011516451.1:c.13209T>G	XP_011514753.1:p.Phe4403Leu
XM_011516452.1:c.13176T>G	XP_011514754.1:p.Phe4392Leu
XM_011516453.1:c.13092T>G	XP_011514755.1:p.Phe4364Leu
XM_011516454.1:c.12414T>G	XP_011514756.1:p.Phe4138Leu
XM_011516455.1:c.10875T>G	XP_011514757.1:p.Phe3625Leu
XM_011516456.1:c.13281T>G	XP_011514758.1:p.Phe4427Leu
XM_005250025.4:c.13329T>G	XP_005250082.1:p.Phe4443Leu
XM_005250026.3:c.13326T>G	XP_005250083.1:p.Phe4442Leu
XM_005250027.4:c.13326T>G	XP_005250084.1:p.Phe4442Leu
XM_005250028.4:c.13329T>G	XP_005250085.1:p.Phe4443Leu
XM_005250031.4:c.13164T>G	XP_005250088.1:p.Phe4388Leu
XM_006716077.3:c.13326T>G	XP_006716140.1:p.Phe4442Leu
XM_006716078.3:c.13257T>G	XP_006716141.1:p.Phe4419Leu
XM_006716079.3:c.13161T>G	XP_006716142.1:p.Phe4387Leu
XM_011516450.2:c.13281T>G	XP_011514752.1:p.Phe4427Leu
XM_011516451.2:c.13209T>G	XP_011514753.1:p.Phe4403Leu
XM_011516452.2:c.13176T>G	XP_011514754.1:p.Phe4392Leu
XM_011516453.2:c.13092T>G	XP_011514755.1:p.Phe4364Leu
XM_011516454.2:c.12414T>G	XP_011514756.1:p.Phe4138Leu
XM_011516456.2:c.13281T>G	XP_011514758.1:p.Phe4427Leu
XM_017012480.1:c.13329T>G	XP_016867969.1:p.Phe4443Leu
XM_017012481.1:c.13326T>G	XP_016867970.1:p.Phe4442Leu
XM_017012482.1:c.13326T>G	XP_016867971.1:p.Phe4442Leu
XM_017012483.1:c.13326T>G	XP_016867972.1:p.Phe4442Leu
XM_017012484.1:c.13296T>G	XP_016867973.1:p.Phe4432Leu
XM_017012485.1:c.13278T>G	XP_016867974.1:p.Phe4426Leu
XM_017012486.1:c.13254T>G	XP_016867975.1:p.Phe4418Leu
XM_017012487.1:c.13182T>G	XP_016867976.1:p.Phe4394Leu
XM_017012488.1:c.13146T>G	XP_016867977.1:p.Phe4382Leu
XM_017012489.1:c.9999T>G	XP_016867978.1:p.Phe3333Leu
XM_017012490.2:c.9603T>G	XP_016867979.1:p.Phe3201Leu
XM_024446852.1:c.13326T>G	XP_024302620.1:p.Phe4442Leu
XM_024446853.1:c.13254T>G	XP_024302621.1:p.Phe4418Leu
NM_170606.3:c.13113T>G MANE Select	NP_733751.2:p.Phe4371Leu