Canonical Allele Identifier: CA4578663

Gene: KMT2C

Linked Data

• dbSNP Id: rs553041151
• ExAC: 7:151845863 T / C
• gnomAD v2: 7-151845863-T-C
• gnomAD v3: 7-152148778-T-C
• gnomAD v4: 7-152148778-T-C
• MyVariant Identifiers: chr7:g.151845863T>C (hg19) ; chr7:g.152148778T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148778T>C , CM000669.2:g.152148778T>C	GRCh38
NC_000007.13:g.151845863T>C , CM000669.1:g.151845863T>C	GRCh37
NC_000007.12:g.151476796T>C	NCBI36
NG_033948.1:g.292228A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682040.1:c.1337A>G
ENST00000682116.1:n.2281A>G
ENST00000682283.1:c.13320A>G	ENSP00000507485.1:p.Leu4440=
ENST00000682629.1:n.2449A>G
ENST00000683120.1:n.8341A>G
ENST00000683178.1:c.3722A>G
ENST00000683200.1:c.10659A>G	ENSP00000508052.1:p.Leu3553=
ENST00000683337.1:n.4779A>G
ENST00000683502.1:c.3794A>G
ENST00000683621.1:n.1915A>G
ENST00000683640.1:n.1865A>G
ENST00000684069.1:c.1566A>G	ENSP00000507650.1:p.Leu522=
ENST00000684261.1:c.8046A>G	ENSP00000508097.1:p.Leu2682=
ENST00000684649.1:c.3794A>G
ENST00000262189.11:c.13149A>G MANE Select	ENSP00000262189.6:p.Leu4383=
ENST00000360104.8:c.8936A>G
ENST00000418061.2:c.3791A>G
ENST00000424877.6:c.3725A>G
ENST00000679393.1:n.7860A>G
ENST00000679560.1:c.8049A>G	ENSP00000505094.1:p.Leu2683=
ENST00000679882.1:c.12714A>G	ENSP00000506154.1:p.Leu4238=
ENST00000680029.1:c.3726A>G
ENST00000680877.1:c.8049A>G	ENSP00000505724.1:p.Leu2683=
ENST00000681923.1:n.2164A>G
ENST00000262189.10:c.13149A>G	ENSP00000262189.6:p.Leu4383=
ENST00000355193.6:c.13149A>G	ENSP00000347325.3:p.Leu4383=
ENST00000360104.7:c.5830A>G
ENST00000424877.5:c.3000A>G	ENSP00000410411.1:p.Leu1000=
ENST00000473186.5:n.11031A>G
ENST00000558084.5:c.*10669A>G	ENSP00000453752.1:n.*10669A>G
NM_170606.2:c.13149A>G	NP_733751.2:p.Leu4383=
XM_005250025.3:c.13365A>G	XP_005250082.1:p.Leu4455=
XM_005250026.2:c.13362A>G	XP_005250083.1:p.Leu4454=
XM_005250027.3:c.13362A>G	XP_005250084.1:p.Leu4454=
XM_005250028.3:c.13365A>G	XP_005250085.1:p.Leu4455=
XM_005250031.3:c.13200A>G	XP_005250088.1:p.Leu4400=
XM_006716077.2:c.13362A>G	XP_006716140.1:p.Leu4454=
XM_006716078.2:c.13293A>G	XP_006716141.1:p.Leu4431=
XM_006716079.2:c.13197A>G	XP_006716142.1:p.Leu4399=
XM_011516450.1:c.13317A>G	XP_011514752.1:p.Leu4439=
XM_011516451.1:c.13245A>G	XP_011514753.1:p.Leu4415=
XM_011516452.1:c.13212A>G	XP_011514754.1:p.Leu4404=
XM_011516453.1:c.13128A>G	XP_011514755.1:p.Leu4376=
XM_011516454.1:c.12450A>G	XP_011514756.1:p.Leu4150=
XM_011516455.1:c.10911A>G	XP_011514757.1:p.Leu3637=
XM_011516456.1:c.13317A>G	XP_011514758.1:p.Leu4439=
XM_005250025.4:c.13365A>G	XP_005250082.1:p.Leu4455=
XM_005250026.3:c.13362A>G	XP_005250083.1:p.Leu4454=
XM_005250027.4:c.13362A>G	XP_005250084.1:p.Leu4454=
XM_005250028.4:c.13365A>G	XP_005250085.1:p.Leu4455=
XM_005250031.4:c.13200A>G	XP_005250088.1:p.Leu4400=
XM_006716077.3:c.13362A>G	XP_006716140.1:p.Leu4454=
XM_006716078.3:c.13293A>G	XP_006716141.1:p.Leu4431=
XM_006716079.3:c.13197A>G	XP_006716142.1:p.Leu4399=
XM_011516450.2:c.13317A>G	XP_011514752.1:p.Leu4439=
XM_011516451.2:c.13245A>G	XP_011514753.1:p.Leu4415=
XM_011516452.2:c.13212A>G	XP_011514754.1:p.Leu4404=
XM_011516453.2:c.13128A>G	XP_011514755.1:p.Leu4376=
XM_011516454.2:c.12450A>G	XP_011514756.1:p.Leu4150=
XM_011516456.2:c.13317A>G	XP_011514758.1:p.Leu4439=
XM_017012480.1:c.13365A>G	XP_016867969.1:p.Leu4455=
XM_017012481.1:c.13362A>G	XP_016867970.1:p.Leu4454=
XM_017012482.1:c.13362A>G	XP_016867971.1:p.Leu4454=
XM_017012483.1:c.13362A>G	XP_016867972.1:p.Leu4454=
XM_017012484.1:c.13332A>G	XP_016867973.1:p.Leu4444=
XM_017012485.1:c.13314A>G	XP_016867974.1:p.Leu4438=
XM_017012486.1:c.13290A>G	XP_016867975.1:p.Leu4430=
XM_017012487.1:c.13218A>G	XP_016867976.1:p.Leu4406=
XM_017012488.1:c.13182A>G	XP_016867977.1:p.Leu4394=
XM_017012489.1:c.10035A>G	XP_016867978.1:p.Leu3345=
XM_017012490.2:c.9639A>G	XP_016867979.1:p.Leu3213=
XM_024446852.1:c.13362A>G	XP_024302620.1:p.Leu4454=
XM_024446853.1:c.13290A>G	XP_024302621.1:p.Leu4430=
NM_170606.3:c.13149A>G MANE Select	NP_733751.2:p.Leu4383=