Canonical Allele Identifier: CA370093022

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151845866A>C (hg19) ; chr7:g.152148781A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148781A>C , CM000669.2:g.152148781A>C	GRCh38
NC_000007.13:g.151845866A>C , CM000669.1:g.151845866A>C	GRCh37
NC_000007.12:g.151476799A>C	NCBI36
NG_033948.1:g.292225T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682040.1:c.1334T>G
ENST00000682116.1:n.2278T>G
ENST00000682283.1:c.13317T>G	ENSP00000507485.1:p.Phe4439Leu
ENST00000682629.1:n.2446T>G
ENST00000683120.1:n.8338T>G
ENST00000683178.1:c.3719T>G
ENST00000683200.1:c.10656T>G	ENSP00000508052.1:p.Phe3552Leu
ENST00000683337.1:n.4776T>G
ENST00000683502.1:c.3791T>G
ENST00000683621.1:n.1912T>G
ENST00000683640.1:n.1862T>G
ENST00000684069.1:c.1563T>G	ENSP00000507650.1:p.Phe521Leu
ENST00000684261.1:c.8043T>G	ENSP00000508097.1:p.Phe2681Leu
ENST00000684649.1:c.3791T>G
ENST00000262189.11:c.13146T>G MANE Select	ENSP00000262189.6:p.Phe4382Leu
ENST00000360104.8:c.8933T>G
ENST00000418061.2:c.3788T>G
ENST00000424877.6:c.3722T>G
ENST00000679393.1:n.7857T>G
ENST00000679560.1:c.8046T>G	ENSP00000505094.1:p.Phe2682Leu
ENST00000679882.1:c.12711T>G	ENSP00000506154.1:p.Phe4237Leu
ENST00000680029.1:c.3723T>G
ENST00000680877.1:c.8046T>G	ENSP00000505724.1:p.Phe2682Leu
ENST00000681923.1:n.2161T>G
ENST00000262189.10:c.13146T>G	ENSP00000262189.6:p.Phe4382Leu
ENST00000355193.6:c.13146T>G	ENSP00000347325.3:p.Phe4382Leu
ENST00000360104.7:c.5827T>G
ENST00000424877.5:c.2997T>G	ENSP00000410411.1:p.Phe999Leu
ENST00000473186.5:n.11028T>G
ENST00000558084.5:c.*10666T>G	ENSP00000453752.1:n.*10666T>G
NM_170606.2:c.13146T>G	NP_733751.2:p.Phe4382Leu
XM_005250025.3:c.13362T>G	XP_005250082.1:p.Phe4454Leu
XM_005250026.2:c.13359T>G	XP_005250083.1:p.Phe4453Leu
XM_005250027.3:c.13359T>G	XP_005250084.1:p.Phe4453Leu
XM_005250028.3:c.13362T>G	XP_005250085.1:p.Phe4454Leu
XM_005250031.3:c.13197T>G	XP_005250088.1:p.Phe4399Leu
XM_006716077.2:c.13359T>G	XP_006716140.1:p.Phe4453Leu
XM_006716078.2:c.13290T>G	XP_006716141.1:p.Phe4430Leu
XM_006716079.2:c.13194T>G	XP_006716142.1:p.Phe4398Leu
XM_011516450.1:c.13314T>G	XP_011514752.1:p.Phe4438Leu
XM_011516451.1:c.13242T>G	XP_011514753.1:p.Phe4414Leu
XM_011516452.1:c.13209T>G	XP_011514754.1:p.Phe4403Leu
XM_011516453.1:c.13125T>G	XP_011514755.1:p.Phe4375Leu
XM_011516454.1:c.12447T>G	XP_011514756.1:p.Phe4149Leu
XM_011516455.1:c.10908T>G	XP_011514757.1:p.Phe3636Leu
XM_011516456.1:c.13314T>G	XP_011514758.1:p.Phe4438Leu
XM_005250025.4:c.13362T>G	XP_005250082.1:p.Phe4454Leu
XM_005250026.3:c.13359T>G	XP_005250083.1:p.Phe4453Leu
XM_005250027.4:c.13359T>G	XP_005250084.1:p.Phe4453Leu
XM_005250028.4:c.13362T>G	XP_005250085.1:p.Phe4454Leu
XM_005250031.4:c.13197T>G	XP_005250088.1:p.Phe4399Leu
XM_006716077.3:c.13359T>G	XP_006716140.1:p.Phe4453Leu
XM_006716078.3:c.13290T>G	XP_006716141.1:p.Phe4430Leu
XM_006716079.3:c.13194T>G	XP_006716142.1:p.Phe4398Leu
XM_011516450.2:c.13314T>G	XP_011514752.1:p.Phe4438Leu
XM_011516451.2:c.13242T>G	XP_011514753.1:p.Phe4414Leu
XM_011516452.2:c.13209T>G	XP_011514754.1:p.Phe4403Leu
XM_011516453.2:c.13125T>G	XP_011514755.1:p.Phe4375Leu
XM_011516454.2:c.12447T>G	XP_011514756.1:p.Phe4149Leu
XM_011516456.2:c.13314T>G	XP_011514758.1:p.Phe4438Leu
XM_017012480.1:c.13362T>G	XP_016867969.1:p.Phe4454Leu
XM_017012481.1:c.13359T>G	XP_016867970.1:p.Phe4453Leu
XM_017012482.1:c.13359T>G	XP_016867971.1:p.Phe4453Leu
XM_017012483.1:c.13359T>G	XP_016867972.1:p.Phe4453Leu
XM_017012484.1:c.13329T>G	XP_016867973.1:p.Phe4443Leu
XM_017012485.1:c.13311T>G	XP_016867974.1:p.Phe4437Leu
XM_017012486.1:c.13287T>G	XP_016867975.1:p.Phe4429Leu
XM_017012487.1:c.13215T>G	XP_016867976.1:p.Phe4405Leu
XM_017012488.1:c.13179T>G	XP_016867977.1:p.Phe4393Leu
XM_017012489.1:c.10032T>G	XP_016867978.1:p.Phe3344Leu
XM_017012490.2:c.9636T>G	XP_016867979.1:p.Phe3212Leu
XM_024446852.1:c.13359T>G	XP_024302620.1:p.Phe4453Leu
XM_024446853.1:c.13287T>G	XP_024302621.1:p.Phe4429Leu
NM_170606.3:c.13146T>G MANE Select	NP_733751.2:p.Phe4382Leu