Canonical Allele Identifier: CA370100562

Gene: KMT2C

Linked Data

• dbSNP Id: rs2129121636
• MyVariant Identifiers: chr7:g.151880240T>A (hg19) ; chr7:g.152183155T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152183155T>A , CM000669.2:g.152183155T>A	GRCh38
NC_000007.13:g.151880240T>A , CM000669.1:g.151880240T>A	GRCh37
NC_000007.12:g.151511173T>A	NCBI36
NG_033948.1:g.257851A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682176.1:c.1803A>T
ENST00000682283.1:c.5084A>T	ENSP00000507485.1:p.Gln1695Leu
ENST00000683159.1:c.576-561A>T
ENST00000683200.1:c.2432A>T	ENSP00000508052.1:p.Gln811Leu
ENST00000262189.11:c.5084A>T MANE Select	ENSP00000262189.6:p.Gln1695Leu
ENST00000360104.8:c.706A>T
ENST00000679645.1:c.*1177A>T	ENSP00000505745.1:n.*1177A>T
ENST00000679882.1:c.4859A>T	ENSP00000506154.1:p.Gln1620Leu
ENST00000680969.1:c.2480A>T	ENSP00000505951.1:p.Gln827Leu
ENST00000681033.1:c.3782A>T	ENSP00000505058.1:p.Gln1261Leu
ENST00000681755.1:n.9A>T
ENST00000262189.10:c.5084A>T	ENSP00000262189.6:p.Gln1695Leu
ENST00000355193.6:c.5084A>T	ENSP00000347325.3:p.Gln1695Leu
ENST00000473186.5:n.2795A>T
ENST00000558084.5:c.*2604A>T	ENSP00000453752.1:n.*2604A>T
NM_170606.2:c.5084A>T	NP_733751.2:p.Gln1695Leu
XM_005250025.3:c.5135A>T	XP_005250082.1:p.Gln1712Leu
XM_005250026.2:c.5132A>T	XP_005250083.1:p.Gln1711Leu
XM_005250027.3:c.5135A>T	XP_005250084.1:p.Gln1712Leu
XM_005250028.3:c.5135A>T	XP_005250085.1:p.Gln1712Leu
XM_005250031.3:c.5135A>T	XP_005250088.1:p.Gln1712Leu
XM_006716077.2:c.5135A>T	XP_006716140.1:p.Gln1712Leu
XM_006716078.2:c.5135A>T	XP_006716141.1:p.Gln1712Leu
XM_006716079.2:c.5135A>T	XP_006716142.1:p.Gln1712Leu
XM_011516450.1:c.5087A>T	XP_011514752.1:p.Gln1696Leu
XM_011516451.1:c.5015A>T	XP_011514753.1:p.Gln1672Leu
XM_011516452.1:c.4982A>T	XP_011514754.1:p.Gln1661Leu
XM_011516453.1:c.5135A>T	XP_011514755.1:p.Gln1712Leu
XM_011516454.1:c.4220A>T	XP_011514756.1:p.Gln1407Leu
XM_011516455.1:c.2681A>T	XP_011514757.1:p.Gln894Leu
XM_011516456.1:c.5087A>T	XP_011514758.1:p.Gln1696Leu
XR_428183.2:n.5343A>T
XM_005250025.4:c.5135A>T	XP_005250082.1:p.Gln1712Leu
XM_005250026.3:c.5132A>T	XP_005250083.1:p.Gln1711Leu
XM_005250027.4:c.5135A>T	XP_005250084.1:p.Gln1712Leu
XM_005250028.4:c.5135A>T	XP_005250085.1:p.Gln1712Leu
XM_005250031.4:c.5135A>T	XP_005250088.1:p.Gln1712Leu
XM_006716077.3:c.5135A>T	XP_006716140.1:p.Gln1712Leu
XM_006716078.3:c.5135A>T	XP_006716141.1:p.Gln1712Leu
XM_006716079.3:c.5135A>T	XP_006716142.1:p.Gln1712Leu
XM_011516450.2:c.5087A>T	XP_011514752.1:p.Gln1696Leu
XM_011516451.2:c.5015A>T	XP_011514753.1:p.Gln1672Leu
XM_011516452.2:c.4982A>T	XP_011514754.1:p.Gln1661Leu
XM_011516453.2:c.5135A>T	XP_011514755.1:p.Gln1712Leu
XM_011516454.2:c.4220A>T	XP_011514756.1:p.Gln1407Leu
XM_011516456.2:c.5087A>T	XP_011514758.1:p.Gln1696Leu
XM_017012480.1:c.5135A>T	XP_016867969.1:p.Gln1712Leu
XM_017012481.1:c.5132A>T	XP_016867970.1:p.Gln1711Leu
XM_017012482.1:c.5135A>T	XP_016867971.1:p.Gln1712Leu
XM_017012483.1:c.5135A>T	XP_016867972.1:p.Gln1712Leu
XM_017012484.1:c.5102A>T	XP_016867973.1:p.Gln1701Leu
XM_017012485.1:c.5084A>T	XP_016867974.1:p.Gln1695Leu
XM_017012486.1:c.5135A>T	XP_016867975.1:p.Gln1712Leu
XM_017012487.1:c.4988A>T	XP_016867976.1:p.Gln1663Leu
XM_017012488.1:c.5134-561A>T	XP_016867977.1:n.5134-561A>T
XM_017012489.1:c.1805A>T	XP_016867978.1:p.Gln602Leu
XM_017012490.2:c.1409A>T	XP_016867979.1:p.Gln470Leu
XM_024446852.1:c.5132A>T	XP_024302620.1:p.Gln1711Leu
XM_024446853.1:c.5135A>T	XP_024302621.1:p.Gln1712Leu
XR_428183.3:n.5367A>T
NM_170606.3:c.5084A>T MANE Select	NP_733751.2:p.Gln1695Leu