Canonical Allele Identifier: CA458884980

Gene: KMT2C

Linked Data

• dbSNP Id: rs2091363013
• gnomAD v3: 7-152148688-T-C
• gnomAD v4: 7-152148688-T-C
• MyVariant Identifiers: chr7:g.151845773T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148688T>C , CM000669.2:g.152148688T>C	GRCh38
NC_000007.13:g.151845773T>C , CM000669.1:g.151845773T>C	GRCh37
NC_000007.12:g.151476706T>C	NCBI36
NG_033948.1:g.292318A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682040.1:c.1427A>G
ENST00000682116.1:n.2371A>G
ENST00000682283.1:c.13410A>G	ENSP00000507485.1:p.Thr4470=
ENST00000682629.1:n.2539A>G
ENST00000683120.1:n.8431A>G
ENST00000683178.1:c.3812A>G
ENST00000683200.1:c.10749A>G	ENSP00000508052.1:p.Thr3583=
ENST00000683337.1:n.4869A>G
ENST00000683502.1:c.3884A>G
ENST00000683621.1:n.2005A>G
ENST00000683640.1:n.1955A>G
ENST00000684069.1:c.1656A>G	ENSP00000507650.1:p.Thr552=
ENST00000684261.1:c.8136A>G	ENSP00000508097.1:p.Thr2712=
ENST00000684649.1:c.3884A>G
ENST00000262189.11:c.13239A>G MANE Select	ENSP00000262189.6:p.Thr4413=
ENST00000360104.8:c.9026A>G
ENST00000418061.2:c.3881A>G
ENST00000424877.6:c.3815A>G
ENST00000679393.1:n.7950A>G
ENST00000679560.1:c.8139A>G	ENSP00000505094.1:p.Thr2713=
ENST00000679882.1:c.12804A>G	ENSP00000506154.1:p.Thr4268=
ENST00000680029.1:c.3816A>G
ENST00000680877.1:c.8139A>G	ENSP00000505724.1:p.Thr2713=
ENST00000681923.1:n.2254A>G
ENST00000262189.10:c.13239A>G	ENSP00000262189.6:p.Thr4413=
ENST00000355193.6:c.13239A>G	ENSP00000347325.3:p.Thr4413=
ENST00000360104.7:c.5920A>G
ENST00000424877.5:c.3090A>G	ENSP00000410411.1:p.Thr1030=
ENST00000473186.5:n.11121A>G
ENST00000558084.5:c.*10759A>G	ENSP00000453752.1:n.*10759A>G
NM_170606.2:c.13239A>G	NP_733751.2:p.Thr4413=
XM_005250025.3:c.13455A>G	XP_005250082.1:p.Thr4485=
XM_005250026.2:c.13452A>G	XP_005250083.1:p.Thr4484=
XM_005250027.3:c.13452A>G	XP_005250084.1:p.Thr4484=
XM_005250028.3:c.13455A>G	XP_005250085.1:p.Thr4485=
XM_005250031.3:c.13290A>G	XP_005250088.1:p.Thr4430=
XM_006716077.2:c.13452A>G	XP_006716140.1:p.Thr4484=
XM_006716078.2:c.13383A>G	XP_006716141.1:p.Thr4461=
XM_006716079.2:c.13287A>G	XP_006716142.1:p.Thr4429=
XM_011516450.1:c.13407A>G	XP_011514752.1:p.Thr4469=
XM_011516451.1:c.13335A>G	XP_011514753.1:p.Thr4445=
XM_011516452.1:c.13302A>G	XP_011514754.1:p.Thr4434=
XM_011516453.1:c.13218A>G	XP_011514755.1:p.Thr4406=
XM_011516454.1:c.12540A>G	XP_011514756.1:p.Thr4180=
XM_011516455.1:c.11001A>G	XP_011514757.1:p.Thr3667=
XM_011516456.1:c.13407A>G	XP_011514758.1:p.Thr4469=
XM_005250025.4:c.13455A>G	XP_005250082.1:p.Thr4485=
XM_005250026.3:c.13452A>G	XP_005250083.1:p.Thr4484=
XM_005250027.4:c.13452A>G	XP_005250084.1:p.Thr4484=
XM_005250028.4:c.13455A>G	XP_005250085.1:p.Thr4485=
XM_005250031.4:c.13290A>G	XP_005250088.1:p.Thr4430=
XM_006716077.3:c.13452A>G	XP_006716140.1:p.Thr4484=
XM_006716078.3:c.13383A>G	XP_006716141.1:p.Thr4461=
XM_006716079.3:c.13287A>G	XP_006716142.1:p.Thr4429=
XM_011516450.2:c.13407A>G	XP_011514752.1:p.Thr4469=
XM_011516451.2:c.13335A>G	XP_011514753.1:p.Thr4445=
XM_011516452.2:c.13302A>G	XP_011514754.1:p.Thr4434=
XM_011516453.2:c.13218A>G	XP_011514755.1:p.Thr4406=
XM_011516454.2:c.12540A>G	XP_011514756.1:p.Thr4180=
XM_011516456.2:c.13407A>G	XP_011514758.1:p.Thr4469=
XM_017012480.1:c.13455A>G	XP_016867969.1:p.Thr4485=
XM_017012481.1:c.13452A>G	XP_016867970.1:p.Thr4484=
XM_017012482.1:c.13452A>G	XP_016867971.1:p.Thr4484=
XM_017012483.1:c.13452A>G	XP_016867972.1:p.Thr4484=
XM_017012484.1:c.13422A>G	XP_016867973.1:p.Thr4474=
XM_017012485.1:c.13404A>G	XP_016867974.1:p.Thr4468=
XM_017012486.1:c.13380A>G	XP_016867975.1:p.Thr4460=
XM_017012487.1:c.13308A>G	XP_016867976.1:p.Thr4436=
XM_017012488.1:c.13272A>G	XP_016867977.1:p.Thr4424=
XM_017012489.1:c.10125A>G	XP_016867978.1:p.Thr3375=
XM_017012490.2:c.9729A>G	XP_016867979.1:p.Thr3243=
XM_024446852.1:c.13452A>G	XP_024302620.1:p.Thr4484=
XM_024446853.1:c.13380A>G	XP_024302621.1:p.Thr4460=
NM_170606.3:c.13239A>G MANE Select	NP_733751.2:p.Thr4413=