Canonical Allele Identifier: CA370093290

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151845942C>G (hg19) ; chr7:g.152148857C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148857C>G , CM000669.2:g.152148857C>G	GRCh38
NC_000007.13:g.151845942C>G , CM000669.1:g.151845942C>G	GRCh37
NC_000007.12:g.151476875C>G	NCBI36
NG_033948.1:g.292149G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1258G>C
ENST00000682116.1:n.2202G>C
ENST00000682283.1:c.13241G>C	ENSP00000507485.1:p.Trp4414Ser
ENST00000682629.1:n.2370G>C
ENST00000683120.1:n.8262G>C
ENST00000683178.1:c.3643G>C
ENST00000683200.1:c.10580G>C	ENSP00000508052.1:p.Trp3527Ser
ENST00000683337.1:n.4700G>C
ENST00000683502.1:c.3715G>C
ENST00000683621.1:n.1836G>C
ENST00000683640.1:n.1786G>C
ENST00000684069.1:c.1487G>C	ENSP00000507650.1:p.Trp496Ser
ENST00000684261.1:c.7967G>C	ENSP00000508097.1:p.Trp2656Ser
ENST00000684649.1:c.3715G>C
ENST00000262189.11:c.13070G>C MANE Select	ENSP00000262189.6:p.Trp4357Ser
ENST00000360104.8:c.8857G>C
ENST00000418061.2:c.3712G>C
ENST00000424877.6:c.3646G>C
ENST00000679393.1:n.7781G>C
ENST00000679560.1:c.7970G>C	ENSP00000505094.1:p.Trp2657Ser
ENST00000679882.1:c.12635G>C	ENSP00000506154.1:p.Trp4212Ser
ENST00000680029.1:c.3647G>C
ENST00000680877.1:c.7970G>C	ENSP00000505724.1:p.Trp2657Ser
ENST00000681923.1:n.2085G>C
ENST00000262189.10:c.13070G>C	ENSP00000262189.6:p.Trp4357Ser
ENST00000355193.6:c.13070G>C	ENSP00000347325.3:p.Trp4357Ser
ENST00000360104.7:c.5751G>C
ENST00000424877.5:c.2921G>C	ENSP00000410411.1:p.Trp974Ser
ENST00000473186.5:n.10952G>C
ENST00000558084.5:c.*10590G>C	ENSP00000453752.1:n.*10590G>C
NM_170606.2:c.13070G>C	NP_733751.2:p.Trp4357Ser
XM_005250025.3:c.13286G>C	XP_005250082.1:p.Trp4429Ser
XM_005250026.2:c.13283G>C	XP_005250083.1:p.Trp4428Ser
XM_005250027.3:c.13283G>C	XP_005250084.1:p.Trp4428Ser
XM_005250028.3:c.13286G>C	XP_005250085.1:p.Trp4429Ser
XM_005250031.3:c.13121G>C	XP_005250088.1:p.Trp4374Ser
XM_006716077.2:c.13283G>C	XP_006716140.1:p.Trp4428Ser
XM_006716078.2:c.13214G>C	XP_006716141.1:p.Trp4405Ser
XM_006716079.2:c.13118G>C	XP_006716142.1:p.Trp4373Ser
XM_011516450.1:c.13238G>C	XP_011514752.1:p.Trp4413Ser
XM_011516451.1:c.13166G>C	XP_011514753.1:p.Trp4389Ser
XM_011516452.1:c.13133G>C	XP_011514754.1:p.Trp4378Ser
XM_011516453.1:c.13049G>C	XP_011514755.1:p.Trp4350Ser
XM_011516454.1:c.12371G>C	XP_011514756.1:p.Trp4124Ser
XM_011516455.1:c.10832G>C	XP_011514757.1:p.Trp3611Ser
XM_011516456.1:c.13238G>C	XP_011514758.1:p.Trp4413Ser
XM_005250025.4:c.13286G>C	XP_005250082.1:p.Trp4429Ser
XM_005250026.3:c.13283G>C	XP_005250083.1:p.Trp4428Ser
XM_005250027.4:c.13283G>C	XP_005250084.1:p.Trp4428Ser
XM_005250028.4:c.13286G>C	XP_005250085.1:p.Trp4429Ser
XM_005250031.4:c.13121G>C	XP_005250088.1:p.Trp4374Ser
XM_006716077.3:c.13283G>C	XP_006716140.1:p.Trp4428Ser
XM_006716078.3:c.13214G>C	XP_006716141.1:p.Trp4405Ser
XM_006716079.3:c.13118G>C	XP_006716142.1:p.Trp4373Ser
XM_011516450.2:c.13238G>C	XP_011514752.1:p.Trp4413Ser
XM_011516451.2:c.13166G>C	XP_011514753.1:p.Trp4389Ser
XM_011516452.2:c.13133G>C	XP_011514754.1:p.Trp4378Ser
XM_011516453.2:c.13049G>C	XP_011514755.1:p.Trp4350Ser
XM_011516454.2:c.12371G>C	XP_011514756.1:p.Trp4124Ser
XM_011516456.2:c.13238G>C	XP_011514758.1:p.Trp4413Ser
XM_017012480.1:c.13286G>C	XP_016867969.1:p.Trp4429Ser
XM_017012481.1:c.13283G>C	XP_016867970.1:p.Trp4428Ser
XM_017012482.1:c.13283G>C	XP_016867971.1:p.Trp4428Ser
XM_017012483.1:c.13283G>C	XP_016867972.1:p.Trp4428Ser
XM_017012484.1:c.13253G>C	XP_016867973.1:p.Trp4418Ser
XM_017012485.1:c.13235G>C	XP_016867974.1:p.Trp4412Ser
XM_017012486.1:c.13211G>C	XP_016867975.1:p.Trp4404Ser
XM_017012487.1:c.13139G>C	XP_016867976.1:p.Trp4380Ser
XM_017012488.1:c.13103G>C	XP_016867977.1:p.Trp4368Ser
XM_017012489.1:c.9956G>C	XP_016867978.1:p.Trp3319Ser
XM_017012490.2:c.9560G>C	XP_016867979.1:p.Trp3187Ser
XM_024446852.1:c.13283G>C	XP_024302620.1:p.Trp4428Ser
XM_024446853.1:c.13211G>C	XP_024302621.1:p.Trp4404Ser
NM_170606.3:c.13070G>C MANE Select	NP_733751.2:p.Trp4357Ser