Canonical Allele Identifier: CA370100080

Gene: KMT2C

Linked Data

• ClinVar Variation Id: 2433186
• ClinVar RCV Id: RCV003133908
• dbSNP Id: rs779514740
• MyVariant Identifiers: chr7:g.151880135C>A (hg19) ; chr7:g.152183050C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152183050C>A , CM000669.2:g.152183050C>A	GRCh38
NC_000007.13:g.151880135C>A , CM000669.1:g.151880135C>A	GRCh37
NC_000007.12:g.151511068C>A	NCBI36
NG_033948.1:g.257956G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682176.1:c.1908G>T
ENST00000682283.1:c.5189G>T	ENSP00000507485.1:p.Arg1730Leu
ENST00000683159.1:c.576-456G>T
ENST00000683200.1:c.2537G>T	ENSP00000508052.1:p.Arg846Leu
ENST00000262189.11:c.5189G>T MANE Select	ENSP00000262189.6:p.Arg1730Leu
ENST00000360104.8:c.811G>T
ENST00000679645.1:c.*1282G>T	ENSP00000505745.1:n.*1282G>T
ENST00000679882.1:c.4964G>T	ENSP00000506154.1:p.Arg1655Leu
ENST00000680969.1:c.2585G>T	ENSP00000505951.1:p.Arg862Leu
ENST00000681033.1:c.3887G>T	ENSP00000505058.1:p.Arg1296Leu
ENST00000681755.1:n.114G>T
ENST00000262189.10:c.5189G>T	ENSP00000262189.6:p.Arg1730Leu
ENST00000355193.6:c.5189G>T	ENSP00000347325.3:p.Arg1730Leu
ENST00000473186.5:n.2900G>T
ENST00000558084.5:c.*2709G>T	ENSP00000453752.1:n.*2709G>T
NM_170606.2:c.5189G>T	NP_733751.2:p.Arg1730Leu
XM_005250025.3:c.5240G>T	XP_005250082.1:p.Arg1747Leu
XM_005250026.2:c.5237G>T	XP_005250083.1:p.Arg1746Leu
XM_005250027.3:c.5240G>T	XP_005250084.1:p.Arg1747Leu
XM_005250028.3:c.5240G>T	XP_005250085.1:p.Arg1747Leu
XM_005250031.3:c.5240G>T	XP_005250088.1:p.Arg1747Leu
XM_006716077.2:c.5240G>T	XP_006716140.1:p.Arg1747Leu
XM_006716078.2:c.5240G>T	XP_006716141.1:p.Arg1747Leu
XM_006716079.2:c.5240G>T	XP_006716142.1:p.Arg1747Leu
XM_011516450.1:c.5192G>T	XP_011514752.1:p.Arg1731Leu
XM_011516451.1:c.5120G>T	XP_011514753.1:p.Arg1707Leu
XM_011516452.1:c.5087G>T	XP_011514754.1:p.Arg1696Leu
XM_011516453.1:c.5240G>T	XP_011514755.1:p.Arg1747Leu
XM_011516454.1:c.4325G>T	XP_011514756.1:p.Arg1442Leu
XM_011516455.1:c.2786G>T	XP_011514757.1:p.Arg929Leu
XM_011516456.1:c.5192G>T	XP_011514758.1:p.Arg1731Leu
XR_428183.2:n.5448G>T
XM_005250025.4:c.5240G>T	XP_005250082.1:p.Arg1747Leu
XM_005250026.3:c.5237G>T	XP_005250083.1:p.Arg1746Leu
XM_005250027.4:c.5240G>T	XP_005250084.1:p.Arg1747Leu
XM_005250028.4:c.5240G>T	XP_005250085.1:p.Arg1747Leu
XM_005250031.4:c.5240G>T	XP_005250088.1:p.Arg1747Leu
XM_006716077.3:c.5240G>T	XP_006716140.1:p.Arg1747Leu
XM_006716078.3:c.5240G>T	XP_006716141.1:p.Arg1747Leu
XM_006716079.3:c.5240G>T	XP_006716142.1:p.Arg1747Leu
XM_011516450.2:c.5192G>T	XP_011514752.1:p.Arg1731Leu
XM_011516451.2:c.5120G>T	XP_011514753.1:p.Arg1707Leu
XM_011516452.2:c.5087G>T	XP_011514754.1:p.Arg1696Leu
XM_011516453.2:c.5240G>T	XP_011514755.1:p.Arg1747Leu
XM_011516454.2:c.4325G>T	XP_011514756.1:p.Arg1442Leu
XM_011516456.2:c.5192G>T	XP_011514758.1:p.Arg1731Leu
XM_017012480.1:c.5240G>T	XP_016867969.1:p.Arg1747Leu
XM_017012481.1:c.5237G>T	XP_016867970.1:p.Arg1746Leu
XM_017012482.1:c.5240G>T	XP_016867971.1:p.Arg1747Leu
XM_017012483.1:c.5240G>T	XP_016867972.1:p.Arg1747Leu
XM_017012484.1:c.5207G>T	XP_016867973.1:p.Arg1736Leu
XM_017012485.1:c.5189G>T	XP_016867974.1:p.Arg1730Leu
XM_017012486.1:c.5240G>T	XP_016867975.1:p.Arg1747Leu
XM_017012487.1:c.5093G>T	XP_016867976.1:p.Arg1698Leu
XM_017012488.1:c.5134-456G>T	XP_016867977.1:n.5134-456G>T
XM_017012489.1:c.1910G>T	XP_016867978.1:p.Arg637Leu
XM_017012490.2:c.1514G>T	XP_016867979.1:p.Arg505Leu
XM_024446852.1:c.5237G>T	XP_024302620.1:p.Arg1746Leu
XM_024446853.1:c.5240G>T	XP_024302621.1:p.Arg1747Leu
XR_428183.3:n.5472G>T
NM_170606.3:c.5189G>T MANE Select	NP_733751.2:p.Arg1730Leu