Canonical Allele Identifier: CA370093189

Gene: KMT2C

Linked Data

• dbSNP Id: rs2091374360
• MyVariant Identifiers: chr7:g.151845913G>A (hg19) ; chr7:g.152148828G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148828G>A , CM000669.2:g.152148828G>A	GRCh38
NC_000007.13:g.151845913G>A , CM000669.1:g.151845913G>A	GRCh37
NC_000007.12:g.151476846G>A	NCBI36
NG_033948.1:g.292178C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1287C>T
ENST00000682116.1:n.2231C>T
ENST00000682283.1:c.13270C>T	ENSP00000507485.1:p.Pro4424Ser
ENST00000682629.1:n.2399C>T
ENST00000683120.1:n.8291C>T
ENST00000683178.1:c.3672C>T
ENST00000683200.1:c.10609C>T	ENSP00000508052.1:p.Pro3537Ser
ENST00000683337.1:n.4729C>T
ENST00000683502.1:c.3744C>T
ENST00000683621.1:n.1865C>T
ENST00000683640.1:n.1815C>T
ENST00000684069.1:c.1516C>T	ENSP00000507650.1:p.Pro506Ser
ENST00000684261.1:c.7996C>T	ENSP00000508097.1:p.Pro2666Ser
ENST00000684649.1:c.3744C>T
ENST00000262189.11:c.13099C>T MANE Select	ENSP00000262189.6:p.Pro4367Ser
ENST00000360104.8:c.8886C>T
ENST00000418061.2:c.3741C>T
ENST00000424877.6:c.3675C>T
ENST00000679393.1:n.7810C>T
ENST00000679560.1:c.7999C>T	ENSP00000505094.1:p.Pro2667Ser
ENST00000679882.1:c.12664C>T	ENSP00000506154.1:p.Pro4222Ser
ENST00000680029.1:c.3676C>T
ENST00000680877.1:c.7999C>T	ENSP00000505724.1:p.Pro2667Ser
ENST00000681923.1:n.2114C>T
ENST00000262189.10:c.13099C>T	ENSP00000262189.6:p.Pro4367Ser
ENST00000355193.6:c.13099C>T	ENSP00000347325.3:p.Pro4367Ser
ENST00000360104.7:c.5780C>T
ENST00000424877.5:c.2950C>T	ENSP00000410411.1:p.Pro984Ser
ENST00000473186.5:n.10981C>T
ENST00000558084.5:c.*10619C>T	ENSP00000453752.1:n.*10619C>T
NM_170606.2:c.13099C>T	NP_733751.2:p.Pro4367Ser
XM_005250025.3:c.13315C>T	XP_005250082.1:p.Pro4439Ser
XM_005250026.2:c.13312C>T	XP_005250083.1:p.Pro4438Ser
XM_005250027.3:c.13312C>T	XP_005250084.1:p.Pro4438Ser
XM_005250028.3:c.13315C>T	XP_005250085.1:p.Pro4439Ser
XM_005250031.3:c.13150C>T	XP_005250088.1:p.Pro4384Ser
XM_006716077.2:c.13312C>T	XP_006716140.1:p.Pro4438Ser
XM_006716078.2:c.13243C>T	XP_006716141.1:p.Pro4415Ser
XM_006716079.2:c.13147C>T	XP_006716142.1:p.Pro4383Ser
XM_011516450.1:c.13267C>T	XP_011514752.1:p.Pro4423Ser
XM_011516451.1:c.13195C>T	XP_011514753.1:p.Pro4399Ser
XM_011516452.1:c.13162C>T	XP_011514754.1:p.Pro4388Ser
XM_011516453.1:c.13078C>T	XP_011514755.1:p.Pro4360Ser
XM_011516454.1:c.12400C>T	XP_011514756.1:p.Pro4134Ser
XM_011516455.1:c.10861C>T	XP_011514757.1:p.Pro3621Ser
XM_011516456.1:c.13267C>T	XP_011514758.1:p.Pro4423Ser
XM_005250025.4:c.13315C>T	XP_005250082.1:p.Pro4439Ser
XM_005250026.3:c.13312C>T	XP_005250083.1:p.Pro4438Ser
XM_005250027.4:c.13312C>T	XP_005250084.1:p.Pro4438Ser
XM_005250028.4:c.13315C>T	XP_005250085.1:p.Pro4439Ser
XM_005250031.4:c.13150C>T	XP_005250088.1:p.Pro4384Ser
XM_006716077.3:c.13312C>T	XP_006716140.1:p.Pro4438Ser
XM_006716078.3:c.13243C>T	XP_006716141.1:p.Pro4415Ser
XM_006716079.3:c.13147C>T	XP_006716142.1:p.Pro4383Ser
XM_011516450.2:c.13267C>T	XP_011514752.1:p.Pro4423Ser
XM_011516451.2:c.13195C>T	XP_011514753.1:p.Pro4399Ser
XM_011516452.2:c.13162C>T	XP_011514754.1:p.Pro4388Ser
XM_011516453.2:c.13078C>T	XP_011514755.1:p.Pro4360Ser
XM_011516454.2:c.12400C>T	XP_011514756.1:p.Pro4134Ser
XM_011516456.2:c.13267C>T	XP_011514758.1:p.Pro4423Ser
XM_017012480.1:c.13315C>T	XP_016867969.1:p.Pro4439Ser
XM_017012481.1:c.13312C>T	XP_016867970.1:p.Pro4438Ser
XM_017012482.1:c.13312C>T	XP_016867971.1:p.Pro4438Ser
XM_017012483.1:c.13312C>T	XP_016867972.1:p.Pro4438Ser
XM_017012484.1:c.13282C>T	XP_016867973.1:p.Pro4428Ser
XM_017012485.1:c.13264C>T	XP_016867974.1:p.Pro4422Ser
XM_017012486.1:c.13240C>T	XP_016867975.1:p.Pro4414Ser
XM_017012487.1:c.13168C>T	XP_016867976.1:p.Pro4390Ser
XM_017012488.1:c.13132C>T	XP_016867977.1:p.Pro4378Ser
XM_017012489.1:c.9985C>T	XP_016867978.1:p.Pro3329Ser
XM_017012490.2:c.9589C>T	XP_016867979.1:p.Pro3197Ser
XM_024446852.1:c.13312C>T	XP_024302620.1:p.Pro4438Ser
XM_024446853.1:c.13240C>T	XP_024302621.1:p.Pro4414Ser
NM_170606.3:c.13099C>T MANE Select	NP_733751.2:p.Pro4367Ser