Canonical Allele Identifier: CA370093149

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151845901A>C (hg19) ; chr7:g.152148816A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148816A>C , CM000669.2:g.152148816A>C	GRCh38
NC_000007.13:g.151845901A>C , CM000669.1:g.151845901A>C	GRCh37
NC_000007.12:g.151476834A>C	NCBI36
NG_033948.1:g.292190T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1299T>G
ENST00000682116.1:n.2243T>G
ENST00000682283.1:c.13282T>G	ENSP00000507485.1:p.Phe4428Val
ENST00000682629.1:n.2411T>G
ENST00000683120.1:n.8303T>G
ENST00000683178.1:c.3684T>G
ENST00000683200.1:c.10621T>G	ENSP00000508052.1:p.Phe3541Val
ENST00000683337.1:n.4741T>G
ENST00000683502.1:c.3756T>G
ENST00000683621.1:n.1877T>G
ENST00000683640.1:n.1827T>G
ENST00000684069.1:c.1528T>G	ENSP00000507650.1:p.Phe510Val
ENST00000684261.1:c.8008T>G	ENSP00000508097.1:p.Phe2670Val
ENST00000684649.1:c.3756T>G
ENST00000262189.11:c.13111T>G MANE Select	ENSP00000262189.6:p.Phe4371Val
ENST00000360104.8:c.8898T>G
ENST00000418061.2:c.3753T>G
ENST00000424877.6:c.3687T>G
ENST00000679393.1:n.7822T>G
ENST00000679560.1:c.8011T>G	ENSP00000505094.1:p.Phe2671Val
ENST00000679882.1:c.12676T>G	ENSP00000506154.1:p.Phe4226Val
ENST00000680029.1:c.3688T>G
ENST00000680877.1:c.8011T>G	ENSP00000505724.1:p.Phe2671Val
ENST00000681923.1:n.2126T>G
ENST00000262189.10:c.13111T>G	ENSP00000262189.6:p.Phe4371Val
ENST00000355193.6:c.13111T>G	ENSP00000347325.3:p.Phe4371Val
ENST00000360104.7:c.5792T>G
ENST00000424877.5:c.2962T>G	ENSP00000410411.1:p.Phe988Val
ENST00000473186.5:n.10993T>G
ENST00000558084.5:c.*10631T>G	ENSP00000453752.1:n.*10631T>G
NM_170606.2:c.13111T>G	NP_733751.2:p.Phe4371Val
XM_005250025.3:c.13327T>G	XP_005250082.1:p.Phe4443Val
XM_005250026.2:c.13324T>G	XP_005250083.1:p.Phe4442Val
XM_005250027.3:c.13324T>G	XP_005250084.1:p.Phe4442Val
XM_005250028.3:c.13327T>G	XP_005250085.1:p.Phe4443Val
XM_005250031.3:c.13162T>G	XP_005250088.1:p.Phe4388Val
XM_006716077.2:c.13324T>G	XP_006716140.1:p.Phe4442Val
XM_006716078.2:c.13255T>G	XP_006716141.1:p.Phe4419Val
XM_006716079.2:c.13159T>G	XP_006716142.1:p.Phe4387Val
XM_011516450.1:c.13279T>G	XP_011514752.1:p.Phe4427Val
XM_011516451.1:c.13207T>G	XP_011514753.1:p.Phe4403Val
XM_011516452.1:c.13174T>G	XP_011514754.1:p.Phe4392Val
XM_011516453.1:c.13090T>G	XP_011514755.1:p.Phe4364Val
XM_011516454.1:c.12412T>G	XP_011514756.1:p.Phe4138Val
XM_011516455.1:c.10873T>G	XP_011514757.1:p.Phe3625Val
XM_011516456.1:c.13279T>G	XP_011514758.1:p.Phe4427Val
XM_005250025.4:c.13327T>G	XP_005250082.1:p.Phe4443Val
XM_005250026.3:c.13324T>G	XP_005250083.1:p.Phe4442Val
XM_005250027.4:c.13324T>G	XP_005250084.1:p.Phe4442Val
XM_005250028.4:c.13327T>G	XP_005250085.1:p.Phe4443Val
XM_005250031.4:c.13162T>G	XP_005250088.1:p.Phe4388Val
XM_006716077.3:c.13324T>G	XP_006716140.1:p.Phe4442Val
XM_006716078.3:c.13255T>G	XP_006716141.1:p.Phe4419Val
XM_006716079.3:c.13159T>G	XP_006716142.1:p.Phe4387Val
XM_011516450.2:c.13279T>G	XP_011514752.1:p.Phe4427Val
XM_011516451.2:c.13207T>G	XP_011514753.1:p.Phe4403Val
XM_011516452.2:c.13174T>G	XP_011514754.1:p.Phe4392Val
XM_011516453.2:c.13090T>G	XP_011514755.1:p.Phe4364Val
XM_011516454.2:c.12412T>G	XP_011514756.1:p.Phe4138Val
XM_011516456.2:c.13279T>G	XP_011514758.1:p.Phe4427Val
XM_017012480.1:c.13327T>G	XP_016867969.1:p.Phe4443Val
XM_017012481.1:c.13324T>G	XP_016867970.1:p.Phe4442Val
XM_017012482.1:c.13324T>G	XP_016867971.1:p.Phe4442Val
XM_017012483.1:c.13324T>G	XP_016867972.1:p.Phe4442Val
XM_017012484.1:c.13294T>G	XP_016867973.1:p.Phe4432Val
XM_017012485.1:c.13276T>G	XP_016867974.1:p.Phe4426Val
XM_017012486.1:c.13252T>G	XP_016867975.1:p.Phe4418Val
XM_017012487.1:c.13180T>G	XP_016867976.1:p.Phe4394Val
XM_017012488.1:c.13144T>G	XP_016867977.1:p.Phe4382Val
XM_017012489.1:c.9997T>G	XP_016867978.1:p.Phe3333Val
XM_017012490.2:c.9601T>G	XP_016867979.1:p.Phe3201Val
XM_024446852.1:c.13324T>G	XP_024302620.1:p.Phe4442Val
XM_024446853.1:c.13252T>G	XP_024302621.1:p.Phe4418Val
NM_170606.3:c.13111T>G MANE Select	NP_733751.2:p.Phe4371Val