Canonical Allele Identifier: CA370091842

Gene: KMT2C

Linked Data

• gnomAD v4: 7-152148681-G-C
• MyVariant Identifiers: chr7:g.151845766G>C (hg19) ; chr7:g.152148681G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000682040.1:c.1434C>G
ENST00000682116.1:n.2378C>G
ENST00000682283.1:c.13417C>G	ENSP00000507485.1:p.Pro4473Ala
ENST00000682629.1:n.2546C>G
ENST00000683120.1:n.8438C>G
ENST00000683178.1:c.3819C>G
ENST00000683200.1:c.10756C>G	ENSP00000508052.1:p.Pro3586Ala
ENST00000683337.1:n.4876C>G
ENST00000683502.1:c.3891C>G
ENST00000683621.1:n.2012C>G
ENST00000683640.1:n.1962C>G
ENST00000684069.1:c.1663C>G	ENSP00000507650.1:p.Pro555Ala
ENST00000684261.1:c.8143C>G	ENSP00000508097.1:p.Pro2715Ala
ENST00000684391.1:n.4C>G
ENST00000684649.1:c.3891C>G
ENST00000262189.11:c.13246C>G MANE Select	ENSP00000262189.6:p.Pro4416Ala
ENST00000360104.8:c.9033C>G
ENST00000418061.2:c.3888C>G
ENST00000424877.6:c.3822C>G
ENST00000679393.1:n.7957C>G
ENST00000679560.1:c.8146C>G	ENSP00000505094.1:p.Pro2716Ala
ENST00000679882.1:c.12811C>G	ENSP00000506154.1:p.Pro4271Ala
ENST00000680029.1:c.3823C>G
ENST00000680877.1:c.8146C>G	ENSP00000505724.1:p.Pro2716Ala
ENST00000681923.1:n.2261C>G
ENST00000262189.10:c.13246C>G	ENSP00000262189.6:p.Pro4416Ala
ENST00000355193.6:c.13246C>G	ENSP00000347325.3:p.Pro4416Ala
ENST00000360104.7:c.5927C>G
ENST00000424877.5:c.3097C>G	ENSP00000410411.1:p.Pro1033Ala
ENST00000473186.5:n.11128C>G
ENST00000558084.5:c.*10766C>G	ENSP00000453752.1:n.*10766C>G
NM_170606.2:c.13246C>G	NP_733751.2:p.Pro4416Ala
XM_005250025.3:c.13462C>G	XP_005250082.1:p.Pro4488Ala
XM_005250026.2:c.13459C>G	XP_005250083.1:p.Pro4487Ala
XM_005250027.3:c.13459C>G	XP_005250084.1:p.Pro4487Ala
XM_005250028.3:c.13462C>G	XP_005250085.1:p.Pro4488Ala
XM_005250031.3:c.13297C>G	XP_005250088.1:p.Pro4433Ala
XM_006716077.2:c.13459C>G	XP_006716140.1:p.Pro4487Ala
XM_006716078.2:c.13390C>G	XP_006716141.1:p.Pro4464Ala
XM_006716079.2:c.13294C>G	XP_006716142.1:p.Pro4432Ala
XM_011516450.1:c.13414C>G	XP_011514752.1:p.Pro4472Ala
XM_011516451.1:c.13342C>G	XP_011514753.1:p.Pro4448Ala
XM_011516452.1:c.13309C>G	XP_011514754.1:p.Pro4437Ala
XM_011516453.1:c.13225C>G	XP_011514755.1:p.Pro4409Ala
XM_011516454.1:c.12547C>G	XP_011514756.1:p.Pro4183Ala
XM_011516455.1:c.11008C>G	XP_011514757.1:p.Pro3670Ala
XM_011516456.1:c.13414C>G	XP_011514758.1:p.Pro4472Ala
XM_005250025.4:c.13462C>G	XP_005250082.1:p.Pro4488Ala
XM_005250026.3:c.13459C>G	XP_005250083.1:p.Pro4487Ala
XM_005250027.4:c.13459C>G	XP_005250084.1:p.Pro4487Ala
XM_005250028.4:c.13462C>G	XP_005250085.1:p.Pro4488Ala
XM_005250031.4:c.13297C>G	XP_005250088.1:p.Pro4433Ala
XM_006716077.3:c.13459C>G	XP_006716140.1:p.Pro4487Ala
XM_006716078.3:c.13390C>G	XP_006716141.1:p.Pro4464Ala
XM_006716079.3:c.13294C>G	XP_006716142.1:p.Pro4432Ala
XM_011516450.2:c.13414C>G	XP_011514752.1:p.Pro4472Ala
XM_011516451.2:c.13342C>G	XP_011514753.1:p.Pro4448Ala
XM_011516452.2:c.13309C>G	XP_011514754.1:p.Pro4437Ala
XM_011516453.2:c.13225C>G	XP_011514755.1:p.Pro4409Ala
XM_011516454.2:c.12547C>G	XP_011514756.1:p.Pro4183Ala
XM_011516456.2:c.13414C>G	XP_011514758.1:p.Pro4472Ala
XM_017012480.1:c.13462C>G	XP_016867969.1:p.Pro4488Ala
XM_017012481.1:c.13459C>G	XP_016867970.1:p.Pro4487Ala
XM_017012482.1:c.13459C>G	XP_016867971.1:p.Pro4487Ala
XM_017012483.1:c.13459C>G	XP_016867972.1:p.Pro4487Ala
XM_017012484.1:c.13429C>G	XP_016867973.1:p.Pro4477Ala
XM_017012485.1:c.13411C>G	XP_016867974.1:p.Pro4471Ala
XM_017012486.1:c.13387C>G	XP_016867975.1:p.Pro4463Ala
XM_017012487.1:c.13315C>G	XP_016867976.1:p.Pro4439Ala
XM_017012488.1:c.13279C>G	XP_016867977.1:p.Pro4427Ala
XM_017012489.1:c.10132C>G	XP_016867978.1:p.Pro3378Ala
XM_017012490.2:c.9736C>G	XP_016867979.1:p.Pro3246Ala
XM_024446852.1:c.13459C>G	XP_024302620.1:p.Pro4487Ala
XM_024446853.1:c.13387C>G	XP_024302621.1:p.Pro4463Ala
NM_170606.3:c.13246C>G MANE Select	NP_733751.2:p.Pro4416Ala