Canonical Allele Identifier: CA458884647

Gene: KMT2C

Linked Data

• dbSNP Id: rs1461408575
• gnomAD v2: 7-151845824-G-A
• gnomAD v3: 7-152148739-G-A
• gnomAD v4: 7-152148739-G-A
• MyVariant Identifiers: chr7:g.151845824G>A (hg19) ; chr7:g.152148739G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148739G>A , CM000669.2:g.152148739G>A	GRCh38
NC_000007.13:g.151845824G>A , CM000669.1:g.151845824G>A	GRCh37
NC_000007.12:g.151476757G>A	NCBI36
NG_033948.1:g.292267C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1376C>T
ENST00000682116.1:n.2320C>T
ENST00000682283.1:c.13359C>T	ENSP00000507485.1:p.Pro4453=
ENST00000682629.1:n.2488C>T
ENST00000683120.1:n.8380C>T
ENST00000683178.1:c.3761C>T
ENST00000683200.1:c.10698C>T	ENSP00000508052.1:p.Pro3566=
ENST00000683337.1:n.4818C>T
ENST00000683502.1:c.3833C>T
ENST00000683621.1:n.1954C>T
ENST00000683640.1:n.1904C>T
ENST00000684069.1:c.1605C>T	ENSP00000507650.1:p.Pro535=
ENST00000684261.1:c.8085C>T	ENSP00000508097.1:p.Pro2695=
ENST00000684649.1:c.3833C>T
ENST00000262189.11:c.13188C>T MANE Select	ENSP00000262189.6:p.Pro4396=
ENST00000360104.8:c.8975C>T
ENST00000418061.2:c.3830C>T
ENST00000424877.6:c.3764C>T
ENST00000679393.1:n.7899C>T
ENST00000679560.1:c.8088C>T	ENSP00000505094.1:p.Pro2696=
ENST00000679882.1:c.12753C>T	ENSP00000506154.1:p.Pro4251=
ENST00000680029.1:c.3765C>T
ENST00000680877.1:c.8088C>T	ENSP00000505724.1:p.Pro2696=
ENST00000681923.1:n.2203C>T
ENST00000262189.10:c.13188C>T	ENSP00000262189.6:p.Pro4396=
ENST00000355193.6:c.13188C>T	ENSP00000347325.3:p.Pro4396=
ENST00000360104.7:c.5869C>T
ENST00000424877.5:c.3039C>T	ENSP00000410411.1:p.Pro1013=
ENST00000473186.5:n.11070C>T
ENST00000558084.5:c.*10708C>T	ENSP00000453752.1:n.*10708C>T
NM_170606.2:c.13188C>T	NP_733751.2:p.Pro4396=
XM_005250025.3:c.13404C>T	XP_005250082.1:p.Pro4468=
XM_005250026.2:c.13401C>T	XP_005250083.1:p.Pro4467=
XM_005250027.3:c.13401C>T	XP_005250084.1:p.Pro4467=
XM_005250028.3:c.13404C>T	XP_005250085.1:p.Pro4468=
XM_005250031.3:c.13239C>T	XP_005250088.1:p.Pro4413=
XM_006716077.2:c.13401C>T	XP_006716140.1:p.Pro4467=
XM_006716078.2:c.13332C>T	XP_006716141.1:p.Pro4444=
XM_006716079.2:c.13236C>T	XP_006716142.1:p.Pro4412=
XM_011516450.1:c.13356C>T	XP_011514752.1:p.Pro4452=
XM_011516451.1:c.13284C>T	XP_011514753.1:p.Pro4428=
XM_011516452.1:c.13251C>T	XP_011514754.1:p.Pro4417=
XM_011516453.1:c.13167C>T	XP_011514755.1:p.Pro4389=
XM_011516454.1:c.12489C>T	XP_011514756.1:p.Pro4163=
XM_011516455.1:c.10950C>T	XP_011514757.1:p.Pro3650=
XM_011516456.1:c.13356C>T	XP_011514758.1:p.Pro4452=
XM_005250025.4:c.13404C>T	XP_005250082.1:p.Pro4468=
XM_005250026.3:c.13401C>T	XP_005250083.1:p.Pro4467=
XM_005250027.4:c.13401C>T	XP_005250084.1:p.Pro4467=
XM_005250028.4:c.13404C>T	XP_005250085.1:p.Pro4468=
XM_005250031.4:c.13239C>T	XP_005250088.1:p.Pro4413=
XM_006716077.3:c.13401C>T	XP_006716140.1:p.Pro4467=
XM_006716078.3:c.13332C>T	XP_006716141.1:p.Pro4444=
XM_006716079.3:c.13236C>T	XP_006716142.1:p.Pro4412=
XM_011516450.2:c.13356C>T	XP_011514752.1:p.Pro4452=
XM_011516451.2:c.13284C>T	XP_011514753.1:p.Pro4428=
XM_011516452.2:c.13251C>T	XP_011514754.1:p.Pro4417=
XM_011516453.2:c.13167C>T	XP_011514755.1:p.Pro4389=
XM_011516454.2:c.12489C>T	XP_011514756.1:p.Pro4163=
XM_011516456.2:c.13356C>T	XP_011514758.1:p.Pro4452=
XM_017012480.1:c.13404C>T	XP_016867969.1:p.Pro4468=
XM_017012481.1:c.13401C>T	XP_016867970.1:p.Pro4467=
XM_017012482.1:c.13401C>T	XP_016867971.1:p.Pro4467=
XM_017012483.1:c.13401C>T	XP_016867972.1:p.Pro4467=
XM_017012484.1:c.13371C>T	XP_016867973.1:p.Pro4457=
XM_017012485.1:c.13353C>T	XP_016867974.1:p.Pro4451=
XM_017012486.1:c.13329C>T	XP_016867975.1:p.Pro4443=
XM_017012487.1:c.13257C>T	XP_016867976.1:p.Pro4419=
XM_017012488.1:c.13221C>T	XP_016867977.1:p.Pro4407=
XM_017012489.1:c.10074C>T	XP_016867978.1:p.Pro3358=
XM_017012490.2:c.9678C>T	XP_016867979.1:p.Pro3226=
XM_024446852.1:c.13401C>T	XP_024302620.1:p.Pro4467=
XM_024446853.1:c.13329C>T	XP_024302621.1:p.Pro4443=
NM_170606.3:c.13188C>T MANE Select	NP_733751.2:p.Pro4396=