Canonical Allele Identifier: CA16605296

Gene: KMT2C

Linked Data

• ClinVar Variation Id: 384653
• ClinVar RCV Id: RCV000419858
• dbSNP Id: rs1057522023
• MyVariant Identifiers: chr7:g.151845895G>A (hg19) ; chr7:g.152148810G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148810G>A , CM000669.2:g.152148810G>A	GRCh38
NC_000007.13:g.151845895G>A , CM000669.1:g.151845895G>A	GRCh37
NC_000007.12:g.151476828G>A	NCBI36
NG_033948.1:g.292196C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682040.1:c.1305C>T
ENST00000682116.1:n.2249C>T
ENST00000682283.1:c.13288C>T	ENSP00000507485.1:p.Pro4430Ser
ENST00000682629.1:n.2417C>T
ENST00000683120.1:n.8309C>T
ENST00000683178.1:c.3690C>T
ENST00000683200.1:c.10627C>T	ENSP00000508052.1:p.Pro3543Ser
ENST00000683337.1:n.4747C>T
ENST00000683502.1:c.3762C>T
ENST00000683621.1:n.1883C>T
ENST00000683640.1:n.1833C>T
ENST00000684069.1:c.1534C>T	ENSP00000507650.1:p.Pro512Ser
ENST00000684261.1:c.8014C>T	ENSP00000508097.1:p.Pro2672Ser
ENST00000684649.1:c.3762C>T
ENST00000262189.11:c.13117C>T MANE Select	ENSP00000262189.6:p.Pro4373Ser
ENST00000360104.8:c.8904C>T
ENST00000418061.2:c.3759C>T
ENST00000424877.6:c.3693C>T
ENST00000679393.1:n.7828C>T
ENST00000679560.1:c.8017C>T	ENSP00000505094.1:p.Pro2673Ser
ENST00000679882.1:c.12682C>T	ENSP00000506154.1:p.Pro4228Ser
ENST00000680029.1:c.3694C>T
ENST00000680877.1:c.8017C>T	ENSP00000505724.1:p.Pro2673Ser
ENST00000681923.1:n.2132C>T
ENST00000262189.10:c.13117C>T	ENSP00000262189.6:p.Pro4373Ser
ENST00000355193.6:c.13117C>T	ENSP00000347325.3:p.Pro4373Ser
ENST00000360104.7:c.5798C>T
ENST00000424877.5:c.2968C>T	ENSP00000410411.1:p.Pro990Ser
ENST00000473186.5:n.10999C>T
ENST00000558084.5:c.*10637C>T	ENSP00000453752.1:n.*10637C>T
NM_170606.2:c.13117C>T	NP_733751.2:p.Pro4373Ser
XM_005250025.3:c.13333C>T	XP_005250082.1:p.Pro4445Ser
XM_005250026.2:c.13330C>T	XP_005250083.1:p.Pro4444Ser
XM_005250027.3:c.13330C>T	XP_005250084.1:p.Pro4444Ser
XM_005250028.3:c.13333C>T	XP_005250085.1:p.Pro4445Ser
XM_005250031.3:c.13168C>T	XP_005250088.1:p.Pro4390Ser
XM_006716077.2:c.13330C>T	XP_006716140.1:p.Pro4444Ser
XM_006716078.2:c.13261C>T	XP_006716141.1:p.Pro4421Ser
XM_006716079.2:c.13165C>T	XP_006716142.1:p.Pro4389Ser
XM_011516450.1:c.13285C>T	XP_011514752.1:p.Pro4429Ser
XM_011516451.1:c.13213C>T	XP_011514753.1:p.Pro4405Ser
XM_011516452.1:c.13180C>T	XP_011514754.1:p.Pro4394Ser
XM_011516453.1:c.13096C>T	XP_011514755.1:p.Pro4366Ser
XM_011516454.1:c.12418C>T	XP_011514756.1:p.Pro4140Ser
XM_011516455.1:c.10879C>T	XP_011514757.1:p.Pro3627Ser
XM_011516456.1:c.13285C>T	XP_011514758.1:p.Pro4429Ser
XM_005250025.4:c.13333C>T	XP_005250082.1:p.Pro4445Ser
XM_005250026.3:c.13330C>T	XP_005250083.1:p.Pro4444Ser
XM_005250027.4:c.13330C>T	XP_005250084.1:p.Pro4444Ser
XM_005250028.4:c.13333C>T	XP_005250085.1:p.Pro4445Ser
XM_005250031.4:c.13168C>T	XP_005250088.1:p.Pro4390Ser
XM_006716077.3:c.13330C>T	XP_006716140.1:p.Pro4444Ser
XM_006716078.3:c.13261C>T	XP_006716141.1:p.Pro4421Ser
XM_006716079.3:c.13165C>T	XP_006716142.1:p.Pro4389Ser
XM_011516450.2:c.13285C>T	XP_011514752.1:p.Pro4429Ser
XM_011516451.2:c.13213C>T	XP_011514753.1:p.Pro4405Ser
XM_011516452.2:c.13180C>T	XP_011514754.1:p.Pro4394Ser
XM_011516453.2:c.13096C>T	XP_011514755.1:p.Pro4366Ser
XM_011516454.2:c.12418C>T	XP_011514756.1:p.Pro4140Ser
XM_011516456.2:c.13285C>T	XP_011514758.1:p.Pro4429Ser
XM_017012480.1:c.13333C>T	XP_016867969.1:p.Pro4445Ser
XM_017012481.1:c.13330C>T	XP_016867970.1:p.Pro4444Ser
XM_017012482.1:c.13330C>T	XP_016867971.1:p.Pro4444Ser
XM_017012483.1:c.13330C>T	XP_016867972.1:p.Pro4444Ser
XM_017012484.1:c.13300C>T	XP_016867973.1:p.Pro4434Ser
XM_017012485.1:c.13282C>T	XP_016867974.1:p.Pro4428Ser
XM_017012486.1:c.13258C>T	XP_016867975.1:p.Pro4420Ser
XM_017012487.1:c.13186C>T	XP_016867976.1:p.Pro4396Ser
XM_017012488.1:c.13150C>T	XP_016867977.1:p.Pro4384Ser
XM_017012489.1:c.10003C>T	XP_016867978.1:p.Pro3335Ser
XM_017012490.2:c.9607C>T	XP_016867979.1:p.Pro3203Ser
XM_024446852.1:c.13330C>T	XP_024302620.1:p.Pro4444Ser
XM_024446853.1:c.13258C>T	XP_024302621.1:p.Pro4420Ser
NM_170606.3:c.13117C>T MANE Select	NP_733751.2:p.Pro4373Ser