Canonical Allele Identifier: CA160797

Gene: KMT2C

Linked Data

• ClinVar Variation Id: 134814
• ClinVar RCV Id: RCV000121527
• dbSNP Id: rs201443050
• ExAC: 7:151845766 G / A
• gnomAD v2: 7-151845766-G-A
• gnomAD v3: 7-152148681-G-A
• gnomAD v4: 7-152148681-G-A
• MyVariant Identifiers: chr7:g.151845766G>A (hg19) ; chr7:g.152148681G>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148681G>A , CM000669.2:g.152148681G>A	GRCh38
NC_000007.13:g.151845766G>A , CM000669.1:g.151845766G>A	GRCh37
NC_000007.12:g.151476699G>A	NCBI36
NG_033948.1:g.292325C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682040.1:c.1434C>T
ENST00000682116.1:n.2378C>T
ENST00000682283.1:c.13417C>T	ENSP00000507485.1:p.Pro4473Ser
ENST00000682629.1:n.2546C>T
ENST00000683120.1:n.8438C>T
ENST00000683178.1:c.3819C>T
ENST00000683200.1:c.10756C>T	ENSP00000508052.1:p.Pro3586Ser
ENST00000683337.1:n.4876C>T
ENST00000683502.1:c.3891C>T
ENST00000683621.1:n.2012C>T
ENST00000683640.1:n.1962C>T
ENST00000684069.1:c.1663C>T	ENSP00000507650.1:p.Pro555Ser
ENST00000684261.1:c.8143C>T	ENSP00000508097.1:p.Pro2715Ser
ENST00000684391.1:n.4C>T
ENST00000684649.1:c.3891C>T
ENST00000262189.11:c.13246C>T MANE Select	ENSP00000262189.6:p.Pro4416Ser
ENST00000360104.8:c.9033C>T
ENST00000418061.2:c.3888C>T
ENST00000424877.6:c.3822C>T
ENST00000679393.1:n.7957C>T
ENST00000679560.1:c.8146C>T	ENSP00000505094.1:p.Pro2716Ser
ENST00000679882.1:c.12811C>T	ENSP00000506154.1:p.Pro4271Ser
ENST00000680029.1:c.3823C>T
ENST00000680877.1:c.8146C>T	ENSP00000505724.1:p.Pro2716Ser
ENST00000681923.1:n.2261C>T
ENST00000262189.10:c.13246C>T	ENSP00000262189.6:p.Pro4416Ser
ENST00000355193.6:c.13246C>T	ENSP00000347325.3:p.Pro4416Ser
ENST00000360104.7:c.5927C>T
ENST00000424877.5:c.3097C>T	ENSP00000410411.1:p.Pro1033Ser
ENST00000473186.5:n.11128C>T
ENST00000558084.5:c.*10766C>T	ENSP00000453752.1:n.*10766C>T
NM_170606.2:c.13246C>T	NP_733751.2:p.Pro4416Ser
XM_005250025.3:c.13462C>T	XP_005250082.1:p.Pro4488Ser
XM_005250026.2:c.13459C>T	XP_005250083.1:p.Pro4487Ser
XM_005250027.3:c.13459C>T	XP_005250084.1:p.Pro4487Ser
XM_005250028.3:c.13462C>T	XP_005250085.1:p.Pro4488Ser
XM_005250031.3:c.13297C>T	XP_005250088.1:p.Pro4433Ser
XM_006716077.2:c.13459C>T	XP_006716140.1:p.Pro4487Ser
XM_006716078.2:c.13390C>T	XP_006716141.1:p.Pro4464Ser
XM_006716079.2:c.13294C>T	XP_006716142.1:p.Pro4432Ser
XM_011516450.1:c.13414C>T	XP_011514752.1:p.Pro4472Ser
XM_011516451.1:c.13342C>T	XP_011514753.1:p.Pro4448Ser
XM_011516452.1:c.13309C>T	XP_011514754.1:p.Pro4437Ser
XM_011516453.1:c.13225C>T	XP_011514755.1:p.Pro4409Ser
XM_011516454.1:c.12547C>T	XP_011514756.1:p.Pro4183Ser
XM_011516455.1:c.11008C>T	XP_011514757.1:p.Pro3670Ser
XM_011516456.1:c.13414C>T	XP_011514758.1:p.Pro4472Ser
XM_005250025.4:c.13462C>T	XP_005250082.1:p.Pro4488Ser
XM_005250026.3:c.13459C>T	XP_005250083.1:p.Pro4487Ser
XM_005250027.4:c.13459C>T	XP_005250084.1:p.Pro4487Ser
XM_005250028.4:c.13462C>T	XP_005250085.1:p.Pro4488Ser
XM_005250031.4:c.13297C>T	XP_005250088.1:p.Pro4433Ser
XM_006716077.3:c.13459C>T	XP_006716140.1:p.Pro4487Ser
XM_006716078.3:c.13390C>T	XP_006716141.1:p.Pro4464Ser
XM_006716079.3:c.13294C>T	XP_006716142.1:p.Pro4432Ser
XM_011516450.2:c.13414C>T	XP_011514752.1:p.Pro4472Ser
XM_011516451.2:c.13342C>T	XP_011514753.1:p.Pro4448Ser
XM_011516452.2:c.13309C>T	XP_011514754.1:p.Pro4437Ser
XM_011516453.2:c.13225C>T	XP_011514755.1:p.Pro4409Ser
XM_011516454.2:c.12547C>T	XP_011514756.1:p.Pro4183Ser
XM_011516456.2:c.13414C>T	XP_011514758.1:p.Pro4472Ser
XM_017012480.1:c.13462C>T	XP_016867969.1:p.Pro4488Ser
XM_017012481.1:c.13459C>T	XP_016867970.1:p.Pro4487Ser
XM_017012482.1:c.13459C>T	XP_016867971.1:p.Pro4487Ser
XM_017012483.1:c.13459C>T	XP_016867972.1:p.Pro4487Ser
XM_017012484.1:c.13429C>T	XP_016867973.1:p.Pro4477Ser
XM_017012485.1:c.13411C>T	XP_016867974.1:p.Pro4471Ser
XM_017012486.1:c.13387C>T	XP_016867975.1:p.Pro4463Ser
XM_017012487.1:c.13315C>T	XP_016867976.1:p.Pro4439Ser
XM_017012488.1:c.13279C>T	XP_016867977.1:p.Pro4427Ser
XM_017012489.1:c.10132C>T	XP_016867978.1:p.Pro3378Ser
XM_017012490.2:c.9736C>T	XP_016867979.1:p.Pro3246Ser
XM_024446852.1:c.13459C>T	XP_024302620.1:p.Pro4487Ser
XM_024446853.1:c.13387C>T	XP_024302621.1:p.Pro4463Ser
NM_170606.3:c.13246C>T MANE Select	NP_733751.2:p.Pro4416Ser