Canonical Allele Identifier: CA458884696

Gene: KMT2C

Linked Data

• gnomAD v4: 7-152148780-G-A
• MyVariant Identifiers: chr7:g.151845865G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148780G>A , CM000669.2:g.152148780G>A	GRCh38
NC_000007.13:g.151845865G>A , CM000669.1:g.151845865G>A	GRCh37
NC_000007.12:g.151476798G>A	NCBI36
NG_033948.1:g.292226C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682040.1:c.1335C>T
ENST00000682116.1:n.2279C>T
ENST00000682283.1:c.13318C>T	ENSP00000507485.1:p.Leu4440=
ENST00000682629.1:n.2447C>T
ENST00000683120.1:n.8339C>T
ENST00000683178.1:c.3720C>T
ENST00000683200.1:c.10657C>T	ENSP00000508052.1:p.Leu3553=
ENST00000683337.1:n.4777C>T
ENST00000683502.1:c.3792C>T
ENST00000683621.1:n.1913C>T
ENST00000683640.1:n.1863C>T
ENST00000684069.1:c.1564C>T	ENSP00000507650.1:p.Leu522=
ENST00000684261.1:c.8044C>T	ENSP00000508097.1:p.Leu2682=
ENST00000684649.1:c.3792C>T
ENST00000262189.11:c.13147C>T MANE Select	ENSP00000262189.6:p.Leu4383=
ENST00000360104.8:c.8934C>T
ENST00000418061.2:c.3789C>T
ENST00000424877.6:c.3723C>T
ENST00000679393.1:n.7858C>T
ENST00000679560.1:c.8047C>T	ENSP00000505094.1:p.Leu2683=
ENST00000679882.1:c.12712C>T	ENSP00000506154.1:p.Leu4238=
ENST00000680029.1:c.3724C>T
ENST00000680877.1:c.8047C>T	ENSP00000505724.1:p.Leu2683=
ENST00000681923.1:n.2162C>T
ENST00000262189.10:c.13147C>T	ENSP00000262189.6:p.Leu4383=
ENST00000355193.6:c.13147C>T	ENSP00000347325.3:p.Leu4383=
ENST00000360104.7:c.5828C>T
ENST00000424877.5:c.2998C>T	ENSP00000410411.1:p.Leu1000=
ENST00000473186.5:n.11029C>T
ENST00000558084.5:c.*10667C>T	ENSP00000453752.1:n.*10667C>T
NM_170606.2:c.13147C>T	NP_733751.2:p.Leu4383=
XM_005250025.3:c.13363C>T	XP_005250082.1:p.Leu4455=
XM_005250026.2:c.13360C>T	XP_005250083.1:p.Leu4454=
XM_005250027.3:c.13360C>T	XP_005250084.1:p.Leu4454=
XM_005250028.3:c.13363C>T	XP_005250085.1:p.Leu4455=
XM_005250031.3:c.13198C>T	XP_005250088.1:p.Leu4400=
XM_006716077.2:c.13360C>T	XP_006716140.1:p.Leu4454=
XM_006716078.2:c.13291C>T	XP_006716141.1:p.Leu4431=
XM_006716079.2:c.13195C>T	XP_006716142.1:p.Leu4399=
XM_011516450.1:c.13315C>T	XP_011514752.1:p.Leu4439=
XM_011516451.1:c.13243C>T	XP_011514753.1:p.Leu4415=
XM_011516452.1:c.13210C>T	XP_011514754.1:p.Leu4404=
XM_011516453.1:c.13126C>T	XP_011514755.1:p.Leu4376=
XM_011516454.1:c.12448C>T	XP_011514756.1:p.Leu4150=
XM_011516455.1:c.10909C>T	XP_011514757.1:p.Leu3637=
XM_011516456.1:c.13315C>T	XP_011514758.1:p.Leu4439=
XM_005250025.4:c.13363C>T	XP_005250082.1:p.Leu4455=
XM_005250026.3:c.13360C>T	XP_005250083.1:p.Leu4454=
XM_005250027.4:c.13360C>T	XP_005250084.1:p.Leu4454=
XM_005250028.4:c.13363C>T	XP_005250085.1:p.Leu4455=
XM_005250031.4:c.13198C>T	XP_005250088.1:p.Leu4400=
XM_006716077.3:c.13360C>T	XP_006716140.1:p.Leu4454=
XM_006716078.3:c.13291C>T	XP_006716141.1:p.Leu4431=
XM_006716079.3:c.13195C>T	XP_006716142.1:p.Leu4399=
XM_011516450.2:c.13315C>T	XP_011514752.1:p.Leu4439=
XM_011516451.2:c.13243C>T	XP_011514753.1:p.Leu4415=
XM_011516452.2:c.13210C>T	XP_011514754.1:p.Leu4404=
XM_011516453.2:c.13126C>T	XP_011514755.1:p.Leu4376=
XM_011516454.2:c.12448C>T	XP_011514756.1:p.Leu4150=
XM_011516456.2:c.13315C>T	XP_011514758.1:p.Leu4439=
XM_017012480.1:c.13363C>T	XP_016867969.1:p.Leu4455=
XM_017012481.1:c.13360C>T	XP_016867970.1:p.Leu4454=
XM_017012482.1:c.13360C>T	XP_016867971.1:p.Leu4454=
XM_017012483.1:c.13360C>T	XP_016867972.1:p.Leu4454=
XM_017012484.1:c.13330C>T	XP_016867973.1:p.Leu4444=
XM_017012485.1:c.13312C>T	XP_016867974.1:p.Leu4438=
XM_017012486.1:c.13288C>T	XP_016867975.1:p.Leu4430=
XM_017012487.1:c.13216C>T	XP_016867976.1:p.Leu4406=
XM_017012488.1:c.13180C>T	XP_016867977.1:p.Leu4394=
XM_017012489.1:c.10033C>T	XP_016867978.1:p.Leu3345=
XM_017012490.2:c.9637C>T	XP_016867979.1:p.Leu3213=
XM_024446852.1:c.13360C>T	XP_024302620.1:p.Leu4454=
XM_024446853.1:c.13288C>T	XP_024302621.1:p.Leu4430=
NM_170606.3:c.13147C>T MANE Select	NP_733751.2:p.Leu4383=