Canonical Allele Identifier: CA370092035

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151845801A>G (hg19) ; chr7:g.152148716A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148716A>G , CM000669.2:g.152148716A>G	GRCh38
NC_000007.13:g.151845801A>G , CM000669.1:g.151845801A>G	GRCh37
NC_000007.12:g.151476734A>G	NCBI36
NG_033948.1:g.292290T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1399T>C
ENST00000682116.1:n.2343T>C
ENST00000682283.1:c.13382T>C	ENSP00000507485.1:p.Phe4461Ser
ENST00000682629.1:n.2511T>C
ENST00000683120.1:n.8403T>C
ENST00000683178.1:c.3784T>C
ENST00000683200.1:c.10721T>C	ENSP00000508052.1:p.Phe3574Ser
ENST00000683337.1:n.4841T>C
ENST00000683502.1:c.3856T>C
ENST00000683621.1:n.1977T>C
ENST00000683640.1:n.1927T>C
ENST00000684069.1:c.1628T>C	ENSP00000507650.1:p.Phe543Ser
ENST00000684261.1:c.8108T>C	ENSP00000508097.1:p.Phe2703Ser
ENST00000684649.1:c.3856T>C
ENST00000262189.11:c.13211T>C MANE Select	ENSP00000262189.6:p.Phe4404Ser
ENST00000360104.8:c.8998T>C
ENST00000418061.2:c.3853T>C
ENST00000424877.6:c.3787T>C
ENST00000679393.1:n.7922T>C
ENST00000679560.1:c.8111T>C	ENSP00000505094.1:p.Phe2704Ser
ENST00000679882.1:c.12776T>C	ENSP00000506154.1:p.Phe4259Ser
ENST00000680029.1:c.3788T>C
ENST00000680877.1:c.8111T>C	ENSP00000505724.1:p.Phe2704Ser
ENST00000681923.1:n.2226T>C
ENST00000262189.10:c.13211T>C	ENSP00000262189.6:p.Phe4404Ser
ENST00000355193.6:c.13211T>C	ENSP00000347325.3:p.Phe4404Ser
ENST00000360104.7:c.5892T>C
ENST00000424877.5:c.3062T>C	ENSP00000410411.1:p.Phe1021Ser
ENST00000473186.5:n.11093T>C
ENST00000558084.5:c.*10731T>C	ENSP00000453752.1:n.*10731T>C
NM_170606.2:c.13211T>C	NP_733751.2:p.Phe4404Ser
XM_005250025.3:c.13427T>C	XP_005250082.1:p.Phe4476Ser
XM_005250026.2:c.13424T>C	XP_005250083.1:p.Phe4475Ser
XM_005250027.3:c.13424T>C	XP_005250084.1:p.Phe4475Ser
XM_005250028.3:c.13427T>C	XP_005250085.1:p.Phe4476Ser
XM_005250031.3:c.13262T>C	XP_005250088.1:p.Phe4421Ser
XM_006716077.2:c.13424T>C	XP_006716140.1:p.Phe4475Ser
XM_006716078.2:c.13355T>C	XP_006716141.1:p.Phe4452Ser
XM_006716079.2:c.13259T>C	XP_006716142.1:p.Phe4420Ser
XM_011516450.1:c.13379T>C	XP_011514752.1:p.Phe4460Ser
XM_011516451.1:c.13307T>C	XP_011514753.1:p.Phe4436Ser
XM_011516452.1:c.13274T>C	XP_011514754.1:p.Phe4425Ser
XM_011516453.1:c.13190T>C	XP_011514755.1:p.Phe4397Ser
XM_011516454.1:c.12512T>C	XP_011514756.1:p.Phe4171Ser
XM_011516455.1:c.10973T>C	XP_011514757.1:p.Phe3658Ser
XM_011516456.1:c.13379T>C	XP_011514758.1:p.Phe4460Ser
XM_005250025.4:c.13427T>C	XP_005250082.1:p.Phe4476Ser
XM_005250026.3:c.13424T>C	XP_005250083.1:p.Phe4475Ser
XM_005250027.4:c.13424T>C	XP_005250084.1:p.Phe4475Ser
XM_005250028.4:c.13427T>C	XP_005250085.1:p.Phe4476Ser
XM_005250031.4:c.13262T>C	XP_005250088.1:p.Phe4421Ser
XM_006716077.3:c.13424T>C	XP_006716140.1:p.Phe4475Ser
XM_006716078.3:c.13355T>C	XP_006716141.1:p.Phe4452Ser
XM_006716079.3:c.13259T>C	XP_006716142.1:p.Phe4420Ser
XM_011516450.2:c.13379T>C	XP_011514752.1:p.Phe4460Ser
XM_011516451.2:c.13307T>C	XP_011514753.1:p.Phe4436Ser
XM_011516452.2:c.13274T>C	XP_011514754.1:p.Phe4425Ser
XM_011516453.2:c.13190T>C	XP_011514755.1:p.Phe4397Ser
XM_011516454.2:c.12512T>C	XP_011514756.1:p.Phe4171Ser
XM_011516456.2:c.13379T>C	XP_011514758.1:p.Phe4460Ser
XM_017012480.1:c.13427T>C	XP_016867969.1:p.Phe4476Ser
XM_017012481.1:c.13424T>C	XP_016867970.1:p.Phe4475Ser
XM_017012482.1:c.13424T>C	XP_016867971.1:p.Phe4475Ser
XM_017012483.1:c.13424T>C	XP_016867972.1:p.Phe4475Ser
XM_017012484.1:c.13394T>C	XP_016867973.1:p.Phe4465Ser
XM_017012485.1:c.13376T>C	XP_016867974.1:p.Phe4459Ser
XM_017012486.1:c.13352T>C	XP_016867975.1:p.Phe4451Ser
XM_017012487.1:c.13280T>C	XP_016867976.1:p.Phe4427Ser
XM_017012488.1:c.13244T>C	XP_016867977.1:p.Phe4415Ser
XM_017012489.1:c.10097T>C	XP_016867978.1:p.Phe3366Ser
XM_017012490.2:c.9701T>C	XP_016867979.1:p.Phe3234Ser
XM_024446852.1:c.13424T>C	XP_024302620.1:p.Phe4475Ser
XM_024446853.1:c.13352T>C	XP_024302621.1:p.Phe4451Ser
NM_170606.3:c.13211T>C MANE Select	NP_733751.2:p.Phe4404Ser