Canonical Allele Identifier: CA370100554

Gene: KMT2C

Linked Data

• dbSNP Id: rs2129121633
• MyVariant Identifiers: chr7:g.151880237T>A (hg19) ; chr7:g.152183152T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152183152T>A , CM000669.2:g.152183152T>A	GRCh38
NC_000007.13:g.151880237T>A , CM000669.1:g.151880237T>A	GRCh37
NC_000007.12:g.151511170T>A	NCBI36
NG_033948.1:g.257854A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682176.1:c.1806A>T
ENST00000682283.1:c.5087A>T	ENSP00000507485.1:p.Lys1696Ile
ENST00000683159.1:c.576-558A>T
ENST00000683200.1:c.2435A>T	ENSP00000508052.1:p.Lys812Ile
ENST00000262189.11:c.5087A>T MANE Select	ENSP00000262189.6:p.Lys1696Ile
ENST00000360104.8:c.709A>T
ENST00000679645.1:c.*1180A>T	ENSP00000505745.1:n.*1180A>T
ENST00000679882.1:c.4862A>T	ENSP00000506154.1:p.Lys1621Ile
ENST00000680969.1:c.2483A>T	ENSP00000505951.1:p.Lys828Ile
ENST00000681033.1:c.3785A>T	ENSP00000505058.1:p.Lys1262Ile
ENST00000681755.1:n.12A>T
ENST00000262189.10:c.5087A>T	ENSP00000262189.6:p.Lys1696Ile
ENST00000355193.6:c.5087A>T	ENSP00000347325.3:p.Lys1696Ile
ENST00000473186.5:n.2798A>T
ENST00000558084.5:c.*2607A>T	ENSP00000453752.1:n.*2607A>T
NM_170606.2:c.5087A>T	NP_733751.2:p.Lys1696Ile
XM_005250025.3:c.5138A>T	XP_005250082.1:p.Lys1713Ile
XM_005250026.2:c.5135A>T	XP_005250083.1:p.Lys1712Ile
XM_005250027.3:c.5138A>T	XP_005250084.1:p.Lys1713Ile
XM_005250028.3:c.5138A>T	XP_005250085.1:p.Lys1713Ile
XM_005250031.3:c.5138A>T	XP_005250088.1:p.Lys1713Ile
XM_006716077.2:c.5138A>T	XP_006716140.1:p.Lys1713Ile
XM_006716078.2:c.5138A>T	XP_006716141.1:p.Lys1713Ile
XM_006716079.2:c.5138A>T	XP_006716142.1:p.Lys1713Ile
XM_011516450.1:c.5090A>T	XP_011514752.1:p.Lys1697Ile
XM_011516451.1:c.5018A>T	XP_011514753.1:p.Lys1673Ile
XM_011516452.1:c.4985A>T	XP_011514754.1:p.Lys1662Ile
XM_011516453.1:c.5138A>T	XP_011514755.1:p.Lys1713Ile
XM_011516454.1:c.4223A>T	XP_011514756.1:p.Lys1408Ile
XM_011516455.1:c.2684A>T	XP_011514757.1:p.Lys895Ile
XM_011516456.1:c.5090A>T	XP_011514758.1:p.Lys1697Ile
XR_428183.2:n.5346A>T
XM_005250025.4:c.5138A>T	XP_005250082.1:p.Lys1713Ile
XM_005250026.3:c.5135A>T	XP_005250083.1:p.Lys1712Ile
XM_005250027.4:c.5138A>T	XP_005250084.1:p.Lys1713Ile
XM_005250028.4:c.5138A>T	XP_005250085.1:p.Lys1713Ile
XM_005250031.4:c.5138A>T	XP_005250088.1:p.Lys1713Ile
XM_006716077.3:c.5138A>T	XP_006716140.1:p.Lys1713Ile
XM_006716078.3:c.5138A>T	XP_006716141.1:p.Lys1713Ile
XM_006716079.3:c.5138A>T	XP_006716142.1:p.Lys1713Ile
XM_011516450.2:c.5090A>T	XP_011514752.1:p.Lys1697Ile
XM_011516451.2:c.5018A>T	XP_011514753.1:p.Lys1673Ile
XM_011516452.2:c.4985A>T	XP_011514754.1:p.Lys1662Ile
XM_011516453.2:c.5138A>T	XP_011514755.1:p.Lys1713Ile
XM_011516454.2:c.4223A>T	XP_011514756.1:p.Lys1408Ile
XM_011516456.2:c.5090A>T	XP_011514758.1:p.Lys1697Ile
XM_017012480.1:c.5138A>T	XP_016867969.1:p.Lys1713Ile
XM_017012481.1:c.5135A>T	XP_016867970.1:p.Lys1712Ile
XM_017012482.1:c.5138A>T	XP_016867971.1:p.Lys1713Ile
XM_017012483.1:c.5138A>T	XP_016867972.1:p.Lys1713Ile
XM_017012484.1:c.5105A>T	XP_016867973.1:p.Lys1702Ile
XM_017012485.1:c.5087A>T	XP_016867974.1:p.Lys1696Ile
XM_017012486.1:c.5138A>T	XP_016867975.1:p.Lys1713Ile
XM_017012487.1:c.4991A>T	XP_016867976.1:p.Lys1664Ile
XM_017012488.1:c.5134-558A>T	XP_016867977.1:n.5134-558A>T
XM_017012489.1:c.1808A>T	XP_016867978.1:p.Lys603Ile
XM_017012490.2:c.1412A>T	XP_016867979.1:p.Lys471Ile
XM_024446852.1:c.5135A>T	XP_024302620.1:p.Lys1712Ile
XM_024446853.1:c.5138A>T	XP_024302621.1:p.Lys1713Ile
XR_428183.3:n.5370A>T
NM_170606.3:c.5087A>T MANE Select	NP_733751.2:p.Lys1696Ile