Canonical Allele Identifier: CA370092860

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151845815A>C (hg19) ; chr7:g.152148730A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148730A>C , CM000669.2:g.152148730A>C	GRCh38
NC_000007.13:g.151845815A>C , CM000669.1:g.151845815A>C	GRCh37
NC_000007.12:g.151476748A>C	NCBI36
NG_033948.1:g.292276T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1385T>G
ENST00000682116.1:n.2329T>G
ENST00000682283.1:c.13368T>G	ENSP00000507485.1:p.Tyr4456Ter
ENST00000682629.1:n.2497T>G
ENST00000683120.1:n.8389T>G
ENST00000683178.1:c.3770T>G
ENST00000683200.1:c.10707T>G	ENSP00000508052.1:p.Tyr3569Ter
ENST00000683337.1:n.4827T>G
ENST00000683502.1:c.3842T>G
ENST00000683621.1:n.1963T>G
ENST00000683640.1:n.1913T>G
ENST00000684069.1:c.1614T>G	ENSP00000507650.1:p.Tyr538Ter
ENST00000684261.1:c.8094T>G	ENSP00000508097.1:p.Tyr2698Ter
ENST00000684649.1:c.3842T>G
ENST00000262189.11:c.13197T>G MANE Select	ENSP00000262189.6:p.Tyr4399Ter
ENST00000360104.8:c.8984T>G
ENST00000418061.2:c.3839T>G
ENST00000424877.6:c.3773T>G
ENST00000679393.1:n.7908T>G
ENST00000679560.1:c.8097T>G	ENSP00000505094.1:p.Tyr2699Ter
ENST00000679882.1:c.12762T>G	ENSP00000506154.1:p.Tyr4254Ter
ENST00000680029.1:c.3774T>G
ENST00000680877.1:c.8097T>G	ENSP00000505724.1:p.Tyr2699Ter
ENST00000681923.1:n.2212T>G
ENST00000262189.10:c.13197T>G	ENSP00000262189.6:p.Tyr4399Ter
ENST00000355193.6:c.13197T>G	ENSP00000347325.3:p.Tyr4399Ter
ENST00000360104.7:c.5878T>G
ENST00000424877.5:c.3048T>G	ENSP00000410411.1:p.Tyr1016Ter
ENST00000473186.5:n.11079T>G
ENST00000558084.5:c.*10717T>G	ENSP00000453752.1:n.*10717T>G
NM_170606.2:c.13197T>G	NP_733751.2:p.Tyr4399Ter
XM_005250025.3:c.13413T>G	XP_005250082.1:p.Tyr4471Ter
XM_005250026.2:c.13410T>G	XP_005250083.1:p.Tyr4470Ter
XM_005250027.3:c.13410T>G	XP_005250084.1:p.Tyr4470Ter
XM_005250028.3:c.13413T>G	XP_005250085.1:p.Tyr4471Ter
XM_005250031.3:c.13248T>G	XP_005250088.1:p.Tyr4416Ter
XM_006716077.2:c.13410T>G	XP_006716140.1:p.Tyr4470Ter
XM_006716078.2:c.13341T>G	XP_006716141.1:p.Tyr4447Ter
XM_006716079.2:c.13245T>G	XP_006716142.1:p.Tyr4415Ter
XM_011516450.1:c.13365T>G	XP_011514752.1:p.Tyr4455Ter
XM_011516451.1:c.13293T>G	XP_011514753.1:p.Tyr4431Ter
XM_011516452.1:c.13260T>G	XP_011514754.1:p.Tyr4420Ter
XM_011516453.1:c.13176T>G	XP_011514755.1:p.Tyr4392Ter
XM_011516454.1:c.12498T>G	XP_011514756.1:p.Tyr4166Ter
XM_011516455.1:c.10959T>G	XP_011514757.1:p.Tyr3653Ter
XM_011516456.1:c.13365T>G	XP_011514758.1:p.Tyr4455Ter
XM_005250025.4:c.13413T>G	XP_005250082.1:p.Tyr4471Ter
XM_005250026.3:c.13410T>G	XP_005250083.1:p.Tyr4470Ter
XM_005250027.4:c.13410T>G	XP_005250084.1:p.Tyr4470Ter
XM_005250028.4:c.13413T>G	XP_005250085.1:p.Tyr4471Ter
XM_005250031.4:c.13248T>G	XP_005250088.1:p.Tyr4416Ter
XM_006716077.3:c.13410T>G	XP_006716140.1:p.Tyr4470Ter
XM_006716078.3:c.13341T>G	XP_006716141.1:p.Tyr4447Ter
XM_006716079.3:c.13245T>G	XP_006716142.1:p.Tyr4415Ter
XM_011516450.2:c.13365T>G	XP_011514752.1:p.Tyr4455Ter
XM_011516451.2:c.13293T>G	XP_011514753.1:p.Tyr4431Ter
XM_011516452.2:c.13260T>G	XP_011514754.1:p.Tyr4420Ter
XM_011516453.2:c.13176T>G	XP_011514755.1:p.Tyr4392Ter
XM_011516454.2:c.12498T>G	XP_011514756.1:p.Tyr4166Ter
XM_011516456.2:c.13365T>G	XP_011514758.1:p.Tyr4455Ter
XM_017012480.1:c.13413T>G	XP_016867969.1:p.Tyr4471Ter
XM_017012481.1:c.13410T>G	XP_016867970.1:p.Tyr4470Ter
XM_017012482.1:c.13410T>G	XP_016867971.1:p.Tyr4470Ter
XM_017012483.1:c.13410T>G	XP_016867972.1:p.Tyr4470Ter
XM_017012484.1:c.13380T>G	XP_016867973.1:p.Tyr4460Ter
XM_017012485.1:c.13362T>G	XP_016867974.1:p.Tyr4454Ter
XM_017012486.1:c.13338T>G	XP_016867975.1:p.Tyr4446Ter
XM_017012487.1:c.13266T>G	XP_016867976.1:p.Tyr4422Ter
XM_017012488.1:c.13230T>G	XP_016867977.1:p.Tyr4410Ter
XM_017012489.1:c.10083T>G	XP_016867978.1:p.Tyr3361Ter
XM_017012490.2:c.9687T>G	XP_016867979.1:p.Tyr3229Ter
XM_024446852.1:c.13410T>G	XP_024302620.1:p.Tyr4470Ter
XM_024446853.1:c.13338T>G	XP_024302621.1:p.Tyr4446Ter
NM_170606.3:c.13197T>G MANE Select	NP_733751.2:p.Tyr4399Ter