Canonical Allele Identifier: CA458884699

Gene: KMT2C

Linked Data

• dbSNP Id: rs1267513683
• gnomAD v3: 7-152148781-A-G
• gnomAD v4: 7-152148781-A-G
• MyVariant Identifiers: chr7:g.151845866A>G (hg19) ; chr7:g.152148781A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148781A>G , CM000669.2:g.152148781A>G	GRCh38
NC_000007.13:g.151845866A>G , CM000669.1:g.151845866A>G	GRCh37
NC_000007.12:g.151476799A>G	NCBI36
NG_033948.1:g.292225T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682040.1:c.1334T>C
ENST00000682116.1:n.2278T>C
ENST00000682283.1:c.13317T>C	ENSP00000507485.1:p.Phe4439=
ENST00000682629.1:n.2446T>C
ENST00000683120.1:n.8338T>C
ENST00000683178.1:c.3719T>C
ENST00000683200.1:c.10656T>C	ENSP00000508052.1:p.Phe3552=
ENST00000683337.1:n.4776T>C
ENST00000683502.1:c.3791T>C
ENST00000683621.1:n.1912T>C
ENST00000683640.1:n.1862T>C
ENST00000684069.1:c.1563T>C	ENSP00000507650.1:p.Phe521=
ENST00000684261.1:c.8043T>C	ENSP00000508097.1:p.Phe2681=
ENST00000684649.1:c.3791T>C
ENST00000262189.11:c.13146T>C MANE Select	ENSP00000262189.6:p.Phe4382=
ENST00000360104.8:c.8933T>C
ENST00000418061.2:c.3788T>C
ENST00000424877.6:c.3722T>C
ENST00000679393.1:n.7857T>C
ENST00000679560.1:c.8046T>C	ENSP00000505094.1:p.Phe2682=
ENST00000679882.1:c.12711T>C	ENSP00000506154.1:p.Phe4237=
ENST00000680029.1:c.3723T>C
ENST00000680877.1:c.8046T>C	ENSP00000505724.1:p.Phe2682=
ENST00000681923.1:n.2161T>C
ENST00000262189.10:c.13146T>C	ENSP00000262189.6:p.Phe4382=
ENST00000355193.6:c.13146T>C	ENSP00000347325.3:p.Phe4382=
ENST00000360104.7:c.5827T>C
ENST00000424877.5:c.2997T>C	ENSP00000410411.1:p.Phe999=
ENST00000473186.5:n.11028T>C
ENST00000558084.5:c.*10666T>C	ENSP00000453752.1:n.*10666T>C
NM_170606.2:c.13146T>C	NP_733751.2:p.Phe4382=
XM_005250025.3:c.13362T>C	XP_005250082.1:p.Phe4454=
XM_005250026.2:c.13359T>C	XP_005250083.1:p.Phe4453=
XM_005250027.3:c.13359T>C	XP_005250084.1:p.Phe4453=
XM_005250028.3:c.13362T>C	XP_005250085.1:p.Phe4454=
XM_005250031.3:c.13197T>C	XP_005250088.1:p.Phe4399=
XM_006716077.2:c.13359T>C	XP_006716140.1:p.Phe4453=
XM_006716078.2:c.13290T>C	XP_006716141.1:p.Phe4430=
XM_006716079.2:c.13194T>C	XP_006716142.1:p.Phe4398=
XM_011516450.1:c.13314T>C	XP_011514752.1:p.Phe4438=
XM_011516451.1:c.13242T>C	XP_011514753.1:p.Phe4414=
XM_011516452.1:c.13209T>C	XP_011514754.1:p.Phe4403=
XM_011516453.1:c.13125T>C	XP_011514755.1:p.Phe4375=
XM_011516454.1:c.12447T>C	XP_011514756.1:p.Phe4149=
XM_011516455.1:c.10908T>C	XP_011514757.1:p.Phe3636=
XM_011516456.1:c.13314T>C	XP_011514758.1:p.Phe4438=
XM_005250025.4:c.13362T>C	XP_005250082.1:p.Phe4454=
XM_005250026.3:c.13359T>C	XP_005250083.1:p.Phe4453=
XM_005250027.4:c.13359T>C	XP_005250084.1:p.Phe4453=
XM_005250028.4:c.13362T>C	XP_005250085.1:p.Phe4454=
XM_005250031.4:c.13197T>C	XP_005250088.1:p.Phe4399=
XM_006716077.3:c.13359T>C	XP_006716140.1:p.Phe4453=
XM_006716078.3:c.13290T>C	XP_006716141.1:p.Phe4430=
XM_006716079.3:c.13194T>C	XP_006716142.1:p.Phe4398=
XM_011516450.2:c.13314T>C	XP_011514752.1:p.Phe4438=
XM_011516451.2:c.13242T>C	XP_011514753.1:p.Phe4414=
XM_011516452.2:c.13209T>C	XP_011514754.1:p.Phe4403=
XM_011516453.2:c.13125T>C	XP_011514755.1:p.Phe4375=
XM_011516454.2:c.12447T>C	XP_011514756.1:p.Phe4149=
XM_011516456.2:c.13314T>C	XP_011514758.1:p.Phe4438=
XM_017012480.1:c.13362T>C	XP_016867969.1:p.Phe4454=
XM_017012481.1:c.13359T>C	XP_016867970.1:p.Phe4453=
XM_017012482.1:c.13359T>C	XP_016867971.1:p.Phe4453=
XM_017012483.1:c.13359T>C	XP_016867972.1:p.Phe4453=
XM_017012484.1:c.13329T>C	XP_016867973.1:p.Phe4443=
XM_017012485.1:c.13311T>C	XP_016867974.1:p.Phe4437=
XM_017012486.1:c.13287T>C	XP_016867975.1:p.Phe4429=
XM_017012487.1:c.13215T>C	XP_016867976.1:p.Phe4405=
XM_017012488.1:c.13179T>C	XP_016867977.1:p.Phe4393=
XM_017012489.1:c.10032T>C	XP_016867978.1:p.Phe3344=
XM_017012490.2:c.9636T>C	XP_016867979.1:p.Phe3212=
XM_024446852.1:c.13359T>C	XP_024302620.1:p.Phe4453=
XM_024446853.1:c.13287T>C	XP_024302621.1:p.Phe4429=
NM_170606.3:c.13146T>C MANE Select	NP_733751.2:p.Phe4382=