Canonical Allele Identifier: CA370092857
Community Standard Title: NM_170606.3(KMT2C):c.13198C>T (p.Arg4400Trp)
Gene: KMT2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152148729G>A , CM000669.2:g.152148729G>A GRCh38
NC_000007.13:g.151845814G>A , CM000669.1:g.151845814G>A GRCh37
NC_000007.12:g.151476747G>A NCBI36
NG_033948.1:g.292277C>T

Transcript Alleles

HGVS Amino-acid Change
NM_170606.3:c.13198C>T MANE Select NP_733751.2:p.Arg4400Trp
ENST00000262189.11:c.13198C>T MANE Select ENSP00000262189.6:p.Arg4400Trp
NM_170606.2:c.13198C>T NP_733751.2:p.Arg4400Trp
ENST00000262189.10:c.13198C>T ENSP00000262189.6:p.Arg4400Trp
ENST00000355193.6:c.13198C>T ENSP00000347325.3:p.Arg4400Trp
ENST00000360104.7:c.5879C>T
ENST00000360104.8:c.8985C>T
ENST00000418061.2:c.3840C>T
ENST00000424877.5:c.3049C>T ENSP00000410411.1:p.Arg1017Trp
ENST00000424877.6:c.3774C>T
ENST00000473186.5:n.11080C>T
ENST00000558084.5:c.*10718C>T ENSP00000453752.1:n.*10718C>T
ENST00000679393.1:n.7909C>T
ENST00000679560.1:c.8098C>T ENSP00000505094.1:p.Arg2700Trp
ENST00000679882.1:c.12763C>T ENSP00000506154.1:p.Arg4255Trp
ENST00000680029.1:c.3775C>T
ENST00000680877.1:c.8098C>T ENSP00000505724.1:p.Arg2700Trp
ENST00000681923.1:n.2213C>T
ENST00000682040.1:c.1386C>T
ENST00000682116.1:n.2330C>T
ENST00000682283.1:c.13369C>T ENSP00000507485.1:p.Arg4457Trp
ENST00000682629.1:n.2498C>T
ENST00000683120.1:n.8390C>T
ENST00000683178.1:c.3771C>T
ENST00000683200.1:c.10708C>T ENSP00000508052.1:p.Arg3570Trp
ENST00000683337.1:n.4828C>T
ENST00000683502.1:c.3843C>T
ENST00000683621.1:n.1964C>T
ENST00000683640.1:n.1914C>T
ENST00000684069.1:c.1615C>T ENSP00000507650.1:p.Arg539Trp
ENST00000684261.1:c.8095C>T ENSP00000508097.1:p.Arg2699Trp
ENST00000684649.1:c.3843C>T
XM_005250025.3:c.13414C>T XP_005250082.1:p.Arg4472Trp
XM_005250025.4:c.13414C>T XP_005250082.1:p.Arg4472Trp
XM_005250026.2:c.13411C>T XP_005250083.1:p.Arg4471Trp
XM_005250026.3:c.13411C>T XP_005250083.1:p.Arg4471Trp
XM_005250027.3:c.13411C>T XP_005250084.1:p.Arg4471Trp
XM_005250027.4:c.13411C>T XP_005250084.1:p.Arg4471Trp
XM_005250028.3:c.13414C>T XP_005250085.1:p.Arg4472Trp
XM_005250028.4:c.13414C>T XP_005250085.1:p.Arg4472Trp
XM_005250031.3:c.13249C>T XP_005250088.1:p.Arg4417Trp
XM_005250031.4:c.13249C>T XP_005250088.1:p.Arg4417Trp
XM_006716077.2:c.13411C>T XP_006716140.1:p.Arg4471Trp
XM_006716077.3:c.13411C>T XP_006716140.1:p.Arg4471Trp
XM_006716078.2:c.13342C>T XP_006716141.1:p.Arg4448Trp
XM_006716078.3:c.13342C>T XP_006716141.1:p.Arg4448Trp
XM_006716079.2:c.13246C>T XP_006716142.1:p.Arg4416Trp
XM_006716079.3:c.13246C>T XP_006716142.1:p.Arg4416Trp
XM_011516450.1:c.13366C>T XP_011514752.1:p.Arg4456Trp
XM_011516450.2:c.13366C>T XP_011514752.1:p.Arg4456Trp
XM_011516451.1:c.13294C>T XP_011514753.1:p.Arg4432Trp
XM_011516451.2:c.13294C>T XP_011514753.1:p.Arg4432Trp
XM_011516452.1:c.13261C>T XP_011514754.1:p.Arg4421Trp
XM_011516452.2:c.13261C>T XP_011514754.1:p.Arg4421Trp
XM_011516453.1:c.13177C>T XP_011514755.1:p.Arg4393Trp
XM_011516453.2:c.13177C>T XP_011514755.1:p.Arg4393Trp
XM_011516454.1:c.12499C>T XP_011514756.1:p.Arg4167Trp
XM_011516454.2:c.12499C>T XP_011514756.1:p.Arg4167Trp
XM_011516455.1:c.10960C>T XP_011514757.1:p.Arg3654Trp
XM_011516456.1:c.13366C>T XP_011514758.1:p.Arg4456Trp
XM_011516456.2:c.13366C>T XP_011514758.1:p.Arg4456Trp
XM_017012480.1:c.13414C>T XP_016867969.1:p.Arg4472Trp
XM_017012481.1:c.13411C>T XP_016867970.1:p.Arg4471Trp
XM_017012482.1:c.13411C>T XP_016867971.1:p.Arg4471Trp
XM_017012483.1:c.13411C>T XP_016867972.1:p.Arg4471Trp
XM_017012484.1:c.13381C>T XP_016867973.1:p.Arg4461Trp
XM_017012485.1:c.13363C>T XP_016867974.1:p.Arg4455Trp
XM_017012486.1:c.13339C>T XP_016867975.1:p.Arg4447Trp
XM_017012487.1:c.13267C>T XP_016867976.1:p.Arg4423Trp
XM_017012488.1:c.13231C>T XP_016867977.1:p.Arg4411Trp
XM_017012489.1:c.10084C>T XP_016867978.1:p.Arg3362Trp
XM_017012490.2:c.9688C>T XP_016867979.1:p.Arg3230Trp
XM_024446852.1:c.13411C>T XP_024302620.1:p.Arg4471Trp
XM_024446853.1:c.13339C>T XP_024302621.1:p.Arg4447Trp