Canonical Allele Identifier: CA370093389

Gene: KMT2C

Linked Data

• dbSNP Id: rs2129095587
• MyVariant Identifiers: chr7:g.151845969A>G (hg19) ; chr7:g.152148884A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148884A>G , CM000669.2:g.152148884A>G	GRCh38
NC_000007.13:g.151845969A>G , CM000669.1:g.151845969A>G	GRCh37
NC_000007.12:g.151476902A>G	NCBI36
NG_033948.1:g.292122T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1231T>C
ENST00000682116.1:n.2175T>C
ENST00000682283.1:c.13214T>C	ENSP00000507485.1:p.Leu4405Pro
ENST00000682629.1:n.2343T>C
ENST00000683120.1:n.8235T>C
ENST00000683178.1:c.3616T>C
ENST00000683200.1:c.10553T>C	ENSP00000508052.1:p.Leu3518Pro
ENST00000683337.1:n.4673T>C
ENST00000683502.1:c.3688T>C
ENST00000683621.1:n.1809T>C
ENST00000683640.1:n.1759T>C
ENST00000684069.1:c.1460T>C	ENSP00000507650.1:p.Leu487Pro
ENST00000684261.1:c.7940T>C	ENSP00000508097.1:p.Leu2647Pro
ENST00000684649.1:c.3688T>C
ENST00000262189.11:c.13043T>C MANE Select	ENSP00000262189.6:p.Leu4348Pro
ENST00000360104.8:c.8830T>C
ENST00000418061.2:c.3685T>C
ENST00000424877.6:c.3619T>C
ENST00000679393.1:n.7754T>C
ENST00000679560.1:c.7943T>C	ENSP00000505094.1:p.Leu2648Pro
ENST00000679882.1:c.12608T>C	ENSP00000506154.1:p.Leu4203Pro
ENST00000680029.1:c.3620T>C
ENST00000680877.1:c.7943T>C	ENSP00000505724.1:p.Leu2648Pro
ENST00000681923.1:n.2058T>C
ENST00000262189.10:c.13043T>C	ENSP00000262189.6:p.Leu4348Pro
ENST00000355193.6:c.13043T>C	ENSP00000347325.3:p.Leu4348Pro
ENST00000360104.7:c.5724T>C
ENST00000424877.5:c.2894T>C	ENSP00000410411.1:p.Leu965Pro
ENST00000473186.5:n.10925T>C
ENST00000558084.5:c.*10563T>C	ENSP00000453752.1:n.*10563T>C
NM_170606.2:c.13043T>C	NP_733751.2:p.Leu4348Pro
XM_005250025.3:c.13259T>C	XP_005250082.1:p.Leu4420Pro
XM_005250026.2:c.13256T>C	XP_005250083.1:p.Leu4419Pro
XM_005250027.3:c.13256T>C	XP_005250084.1:p.Leu4419Pro
XM_005250028.3:c.13259T>C	XP_005250085.1:p.Leu4420Pro
XM_005250031.3:c.13094T>C	XP_005250088.1:p.Leu4365Pro
XM_006716077.2:c.13256T>C	XP_006716140.1:p.Leu4419Pro
XM_006716078.2:c.13187T>C	XP_006716141.1:p.Leu4396Pro
XM_006716079.2:c.13091T>C	XP_006716142.1:p.Leu4364Pro
XM_011516450.1:c.13211T>C	XP_011514752.1:p.Leu4404Pro
XM_011516451.1:c.13139T>C	XP_011514753.1:p.Leu4380Pro
XM_011516452.1:c.13106T>C	XP_011514754.1:p.Leu4369Pro
XM_011516453.1:c.13022T>C	XP_011514755.1:p.Leu4341Pro
XM_011516454.1:c.12344T>C	XP_011514756.1:p.Leu4115Pro
XM_011516455.1:c.10805T>C	XP_011514757.1:p.Leu3602Pro
XM_011516456.1:c.13211T>C	XP_011514758.1:p.Leu4404Pro
XM_005250025.4:c.13259T>C	XP_005250082.1:p.Leu4420Pro
XM_005250026.3:c.13256T>C	XP_005250083.1:p.Leu4419Pro
XM_005250027.4:c.13256T>C	XP_005250084.1:p.Leu4419Pro
XM_005250028.4:c.13259T>C	XP_005250085.1:p.Leu4420Pro
XM_005250031.4:c.13094T>C	XP_005250088.1:p.Leu4365Pro
XM_006716077.3:c.13256T>C	XP_006716140.1:p.Leu4419Pro
XM_006716078.3:c.13187T>C	XP_006716141.1:p.Leu4396Pro
XM_006716079.3:c.13091T>C	XP_006716142.1:p.Leu4364Pro
XM_011516450.2:c.13211T>C	XP_011514752.1:p.Leu4404Pro
XM_011516451.2:c.13139T>C	XP_011514753.1:p.Leu4380Pro
XM_011516452.2:c.13106T>C	XP_011514754.1:p.Leu4369Pro
XM_011516453.2:c.13022T>C	XP_011514755.1:p.Leu4341Pro
XM_011516454.2:c.12344T>C	XP_011514756.1:p.Leu4115Pro
XM_011516456.2:c.13211T>C	XP_011514758.1:p.Leu4404Pro
XM_017012480.1:c.13259T>C	XP_016867969.1:p.Leu4420Pro
XM_017012481.1:c.13256T>C	XP_016867970.1:p.Leu4419Pro
XM_017012482.1:c.13256T>C	XP_016867971.1:p.Leu4419Pro
XM_017012483.1:c.13256T>C	XP_016867972.1:p.Leu4419Pro
XM_017012484.1:c.13226T>C	XP_016867973.1:p.Leu4409Pro
XM_017012485.1:c.13208T>C	XP_016867974.1:p.Leu4403Pro
XM_017012486.1:c.13184T>C	XP_016867975.1:p.Leu4395Pro
XM_017012487.1:c.13112T>C	XP_016867976.1:p.Leu4371Pro
XM_017012488.1:c.13076T>C	XP_016867977.1:p.Leu4359Pro
XM_017012489.1:c.9929T>C	XP_016867978.1:p.Leu3310Pro
XM_017012490.2:c.9533T>C	XP_016867979.1:p.Leu3178Pro
XM_024446852.1:c.13256T>C	XP_024302620.1:p.Leu4419Pro
XM_024446853.1:c.13184T>C	XP_024302621.1:p.Leu4395Pro
NM_170606.3:c.13043T>C MANE Select	NP_733751.2:p.Leu4348Pro