Canonical Allele Identifier: CA160717

Gene: KMT2C

Linked Data

• ClinVar Variation Id: 134773
• ClinVar RCV Id: RCV000121486 ; RCV000655963 ; RCV000893694 ; RCV003945087
• dbSNP Id: rs138845109
• ExAC: 7:151874036 T / A
• gnomAD v2: 7-151874036-T-A
• gnomAD v3: 7-152176951-T-A
• gnomAD v4: 7-152176951-T-A
• MyVariant Identifiers: chr7:g.151874036T>A (hg19) ; chr7:g.152176951T>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152176951T>A , CM000669.2:g.152176951T>A	GRCh38
NC_000007.13:g.151874036T>A , CM000669.1:g.151874036T>A	GRCh37
NC_000007.12:g.151504969T>A	NCBI36
NG_033948.1:g.264055A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682176.1:c.5221A>T
ENST00000682283.1:c.8502A>T	ENSP00000507485.1:p.Glu2834Asp
ENST00000683120.1:n.488A>T
ENST00000683159.1:c.3812A>T
ENST00000683200.1:c.5850A>T	ENSP00000508052.1:p.Glu1950Asp
ENST00000683397.1:c.3237A>T	ENSP00000507053.1:p.Glu1079Asp
ENST00000683625.1:c.3237A>T	ENSP00000507769.1:p.Glu1079Asp
ENST00000683670.1:c.3237A>T	ENSP00000507634.1:p.Glu1079Asp
ENST00000684261.1:c.3237A>T	ENSP00000508097.1:p.Glu1079Asp
ENST00000684307.1:c.3237A>T	ENSP00000507202.1:p.Glu1079Asp
ENST00000684398.1:c.3237A>T	ENSP00000507254.1:p.Glu1079Asp
ENST00000262189.11:c.8502A>T MANE Select	ENSP00000262189.6:p.Glu2834Asp
ENST00000360104.8:c.4124A>T
ENST00000558665.2:c.1791A>T	ENSP00000454058.2:p.Glu597Asp
ENST00000679393.1:n.1993A>T
ENST00000679560.1:c.3237A>T	ENSP00000505094.1:p.Glu1079Asp
ENST00000679882.1:c.8277A>T	ENSP00000506154.1:p.Glu2759Asp
ENST00000680877.1:c.3237A>T	ENSP00000505724.1:p.Glu1079Asp
ENST00000680969.1:c.5898A>T	ENSP00000505951.1:p.Glu1966Asp
ENST00000681033.1:c.7200A>T	ENSP00000505058.1:p.Glu2400Asp
ENST00000262189.10:c.8502A>T	ENSP00000262189.6:p.Glu2834Asp
ENST00000355193.6:c.8502A>T	ENSP00000347325.3:p.Glu2834Asp
ENST00000360104.7:c.1018A>T
ENST00000473186.5:n.6213A>T
ENST00000558084.5:c.*6022A>T	ENSP00000453752.1:n.*6022A>T
NM_170606.2:c.8502A>T	NP_733751.2:p.Glu2834Asp
XM_005250025.3:c.8553A>T	XP_005250082.1:p.Glu2851Asp
XM_005250026.2:c.8550A>T	XP_005250083.1:p.Glu2850Asp
XM_005250027.3:c.8553A>T	XP_005250084.1:p.Glu2851Asp
XM_005250028.3:c.8553A>T	XP_005250085.1:p.Glu2851Asp
XM_005250031.3:c.8553A>T	XP_005250088.1:p.Glu2851Asp
XM_006716077.2:c.8553A>T	XP_006716140.1:p.Glu2851Asp
XM_006716078.2:c.8553A>T	XP_006716141.1:p.Glu2851Asp
XM_006716079.2:c.8553A>T	XP_006716142.1:p.Glu2851Asp
XM_011516450.1:c.8505A>T	XP_011514752.1:p.Glu2835Asp
XM_011516451.1:c.8433A>T	XP_011514753.1:p.Glu2811Asp
XM_011516452.1:c.8400A>T	XP_011514754.1:p.Glu2800Asp
XM_011516453.1:c.8553A>T	XP_011514755.1:p.Glu2851Asp
XM_011516454.1:c.7638A>T	XP_011514756.1:p.Glu2546Asp
XM_011516455.1:c.6099A>T	XP_011514757.1:p.Glu2033Asp
XM_011516456.1:c.8505A>T	XP_011514758.1:p.Glu2835Asp
XR_428183.2:n.8761A>T
XM_005250025.4:c.8553A>T	XP_005250082.1:p.Glu2851Asp
XM_005250026.3:c.8550A>T	XP_005250083.1:p.Glu2850Asp
XM_005250027.4:c.8553A>T	XP_005250084.1:p.Glu2851Asp
XM_005250028.4:c.8553A>T	XP_005250085.1:p.Glu2851Asp
XM_005250031.4:c.8553A>T	XP_005250088.1:p.Glu2851Asp
XM_006716077.3:c.8553A>T	XP_006716140.1:p.Glu2851Asp
XM_006716078.3:c.8553A>T	XP_006716141.1:p.Glu2851Asp
XM_006716079.3:c.8553A>T	XP_006716142.1:p.Glu2851Asp
XM_011516450.2:c.8505A>T	XP_011514752.1:p.Glu2835Asp
XM_011516451.2:c.8433A>T	XP_011514753.1:p.Glu2811Asp
XM_011516452.2:c.8400A>T	XP_011514754.1:p.Glu2800Asp
XM_011516453.2:c.8553A>T	XP_011514755.1:p.Glu2851Asp
XM_011516454.2:c.7638A>T	XP_011514756.1:p.Glu2546Asp
XM_011516456.2:c.8505A>T	XP_011514758.1:p.Glu2835Asp
XM_017012480.1:c.8553A>T	XP_016867969.1:p.Glu2851Asp
XM_017012481.1:c.8550A>T	XP_016867970.1:p.Glu2850Asp
XM_017012482.1:c.8553A>T	XP_016867971.1:p.Glu2851Asp
XM_017012483.1:c.8553A>T	XP_016867972.1:p.Glu2851Asp
XM_017012484.1:c.8520A>T	XP_016867973.1:p.Glu2840Asp
XM_017012485.1:c.8502A>T	XP_016867974.1:p.Glu2834Asp
XM_017012486.1:c.8553A>T	XP_016867975.1:p.Glu2851Asp
XM_017012487.1:c.8406A>T	XP_016867976.1:p.Glu2802Asp
XM_017012488.1:c.8370A>T	XP_016867977.1:p.Glu2790Asp
XM_017012489.1:c.5223A>T	XP_016867978.1:p.Glu1741Asp
XM_017012490.2:c.4827A>T	XP_016867979.1:p.Glu1609Asp
XM_024446852.1:c.8550A>T	XP_024302620.1:p.Glu2850Asp
XM_024446853.1:c.8553A>T	XP_024302621.1:p.Glu2851Asp
XR_428183.3:n.8785A>T
NM_170606.3:c.8502A>T MANE Select	NP_733751.2:p.Glu2834Asp