Canonical Allele Identifier: CA370093234

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151845928T>A (hg19) ; chr7:g.152148843T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148843T>A , CM000669.2:g.152148843T>A	GRCh38
NC_000007.13:g.151845928T>A , CM000669.1:g.151845928T>A	GRCh37
NC_000007.12:g.151476861T>A	NCBI36
NG_033948.1:g.292163A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1272A>T
ENST00000682116.1:n.2216A>T
ENST00000682283.1:c.13255A>T	ENSP00000507485.1:p.Ile4419Phe
ENST00000682629.1:n.2384A>T
ENST00000683120.1:n.8276A>T
ENST00000683178.1:c.3657A>T
ENST00000683200.1:c.10594A>T	ENSP00000508052.1:p.Ile3532Phe
ENST00000683337.1:n.4714A>T
ENST00000683502.1:c.3729A>T
ENST00000683621.1:n.1850A>T
ENST00000683640.1:n.1800A>T
ENST00000684069.1:c.1501A>T	ENSP00000507650.1:p.Ile501Phe
ENST00000684261.1:c.7981A>T	ENSP00000508097.1:p.Ile2661Phe
ENST00000684649.1:c.3729A>T
ENST00000262189.11:c.13084A>T MANE Select	ENSP00000262189.6:p.Ile4362Phe
ENST00000360104.8:c.8871A>T
ENST00000418061.2:c.3726A>T
ENST00000424877.6:c.3660A>T
ENST00000679393.1:n.7795A>T
ENST00000679560.1:c.7984A>T	ENSP00000505094.1:p.Ile2662Phe
ENST00000679882.1:c.12649A>T	ENSP00000506154.1:p.Ile4217Phe
ENST00000680029.1:c.3661A>T
ENST00000680877.1:c.7984A>T	ENSP00000505724.1:p.Ile2662Phe
ENST00000681923.1:n.2099A>T
ENST00000262189.10:c.13084A>T	ENSP00000262189.6:p.Ile4362Phe
ENST00000355193.6:c.13084A>T	ENSP00000347325.3:p.Ile4362Phe
ENST00000360104.7:c.5765A>T
ENST00000424877.5:c.2935A>T	ENSP00000410411.1:p.Ile979Phe
ENST00000473186.5:n.10966A>T
ENST00000558084.5:c.*10604A>T	ENSP00000453752.1:n.*10604A>T
NM_170606.2:c.13084A>T	NP_733751.2:p.Ile4362Phe
XM_005250025.3:c.13300A>T	XP_005250082.1:p.Ile4434Phe
XM_005250026.2:c.13297A>T	XP_005250083.1:p.Ile4433Phe
XM_005250027.3:c.13297A>T	XP_005250084.1:p.Ile4433Phe
XM_005250028.3:c.13300A>T	XP_005250085.1:p.Ile4434Phe
XM_005250031.3:c.13135A>T	XP_005250088.1:p.Ile4379Phe
XM_006716077.2:c.13297A>T	XP_006716140.1:p.Ile4433Phe
XM_006716078.2:c.13228A>T	XP_006716141.1:p.Ile4410Phe
XM_006716079.2:c.13132A>T	XP_006716142.1:p.Ile4378Phe
XM_011516450.1:c.13252A>T	XP_011514752.1:p.Ile4418Phe
XM_011516451.1:c.13180A>T	XP_011514753.1:p.Ile4394Phe
XM_011516452.1:c.13147A>T	XP_011514754.1:p.Ile4383Phe
XM_011516453.1:c.13063A>T	XP_011514755.1:p.Ile4355Phe
XM_011516454.1:c.12385A>T	XP_011514756.1:p.Ile4129Phe
XM_011516455.1:c.10846A>T	XP_011514757.1:p.Ile3616Phe
XM_011516456.1:c.13252A>T	XP_011514758.1:p.Ile4418Phe
XM_005250025.4:c.13300A>T	XP_005250082.1:p.Ile4434Phe
XM_005250026.3:c.13297A>T	XP_005250083.1:p.Ile4433Phe
XM_005250027.4:c.13297A>T	XP_005250084.1:p.Ile4433Phe
XM_005250028.4:c.13300A>T	XP_005250085.1:p.Ile4434Phe
XM_005250031.4:c.13135A>T	XP_005250088.1:p.Ile4379Phe
XM_006716077.3:c.13297A>T	XP_006716140.1:p.Ile4433Phe
XM_006716078.3:c.13228A>T	XP_006716141.1:p.Ile4410Phe
XM_006716079.3:c.13132A>T	XP_006716142.1:p.Ile4378Phe
XM_011516450.2:c.13252A>T	XP_011514752.1:p.Ile4418Phe
XM_011516451.2:c.13180A>T	XP_011514753.1:p.Ile4394Phe
XM_011516452.2:c.13147A>T	XP_011514754.1:p.Ile4383Phe
XM_011516453.2:c.13063A>T	XP_011514755.1:p.Ile4355Phe
XM_011516454.2:c.12385A>T	XP_011514756.1:p.Ile4129Phe
XM_011516456.2:c.13252A>T	XP_011514758.1:p.Ile4418Phe
XM_017012480.1:c.13300A>T	XP_016867969.1:p.Ile4434Phe
XM_017012481.1:c.13297A>T	XP_016867970.1:p.Ile4433Phe
XM_017012482.1:c.13297A>T	XP_016867971.1:p.Ile4433Phe
XM_017012483.1:c.13297A>T	XP_016867972.1:p.Ile4433Phe
XM_017012484.1:c.13267A>T	XP_016867973.1:p.Ile4423Phe
XM_017012485.1:c.13249A>T	XP_016867974.1:p.Ile4417Phe
XM_017012486.1:c.13225A>T	XP_016867975.1:p.Ile4409Phe
XM_017012487.1:c.13153A>T	XP_016867976.1:p.Ile4385Phe
XM_017012488.1:c.13117A>T	XP_016867977.1:p.Ile4373Phe
XM_017012489.1:c.9970A>T	XP_016867978.1:p.Ile3324Phe
XM_017012490.2:c.9574A>T	XP_016867979.1:p.Ile3192Phe
XM_024446852.1:c.13297A>T	XP_024302620.1:p.Ile4433Phe
XM_024446853.1:c.13225A>T	XP_024302621.1:p.Ile4409Phe
NM_170606.3:c.13084A>T MANE Select	NP_733751.2:p.Ile4362Phe