Canonical Allele Identifier: CA370093210

Gene: KMT2C

Linked Data

• gnomAD v4: 7-152148836-A-C
• MyVariant Identifiers: chr7:g.151845921A>C (hg19) ; chr7:g.152148836A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148836A>C , CM000669.2:g.152148836A>C	GRCh38
NC_000007.13:g.151845921A>C , CM000669.1:g.151845921A>C	GRCh37
NC_000007.12:g.151476854A>C	NCBI36
NG_033948.1:g.292170T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1279T>G
ENST00000682116.1:n.2223T>G
ENST00000682283.1:c.13262T>G	ENSP00000507485.1:p.Ile4421Ser
ENST00000682629.1:n.2391T>G
ENST00000683120.1:n.8283T>G
ENST00000683178.1:c.3664T>G
ENST00000683200.1:c.10601T>G	ENSP00000508052.1:p.Ile3534Ser
ENST00000683337.1:n.4721T>G
ENST00000683502.1:c.3736T>G
ENST00000683621.1:n.1857T>G
ENST00000683640.1:n.1807T>G
ENST00000684069.1:c.1508T>G	ENSP00000507650.1:p.Ile503Ser
ENST00000684261.1:c.7988T>G	ENSP00000508097.1:p.Ile2663Ser
ENST00000684649.1:c.3736T>G
ENST00000262189.11:c.13091T>G MANE Select	ENSP00000262189.6:p.Ile4364Ser
ENST00000360104.8:c.8878T>G
ENST00000418061.2:c.3733T>G
ENST00000424877.6:c.3667T>G
ENST00000679393.1:n.7802T>G
ENST00000679560.1:c.7991T>G	ENSP00000505094.1:p.Ile2664Ser
ENST00000679882.1:c.12656T>G	ENSP00000506154.1:p.Ile4219Ser
ENST00000680029.1:c.3668T>G
ENST00000680877.1:c.7991T>G	ENSP00000505724.1:p.Ile2664Ser
ENST00000681923.1:n.2106T>G
ENST00000262189.10:c.13091T>G	ENSP00000262189.6:p.Ile4364Ser
ENST00000355193.6:c.13091T>G	ENSP00000347325.3:p.Ile4364Ser
ENST00000360104.7:c.5772T>G
ENST00000424877.5:c.2942T>G	ENSP00000410411.1:p.Ile981Ser
ENST00000473186.5:n.10973T>G
ENST00000558084.5:c.*10611T>G	ENSP00000453752.1:n.*10611T>G
NM_170606.2:c.13091T>G	NP_733751.2:p.Ile4364Ser
XM_005250025.3:c.13307T>G	XP_005250082.1:p.Ile4436Ser
XM_005250026.2:c.13304T>G	XP_005250083.1:p.Ile4435Ser
XM_005250027.3:c.13304T>G	XP_005250084.1:p.Ile4435Ser
XM_005250028.3:c.13307T>G	XP_005250085.1:p.Ile4436Ser
XM_005250031.3:c.13142T>G	XP_005250088.1:p.Ile4381Ser
XM_006716077.2:c.13304T>G	XP_006716140.1:p.Ile4435Ser
XM_006716078.2:c.13235T>G	XP_006716141.1:p.Ile4412Ser
XM_006716079.2:c.13139T>G	XP_006716142.1:p.Ile4380Ser
XM_011516450.1:c.13259T>G	XP_011514752.1:p.Ile4420Ser
XM_011516451.1:c.13187T>G	XP_011514753.1:p.Ile4396Ser
XM_011516452.1:c.13154T>G	XP_011514754.1:p.Ile4385Ser
XM_011516453.1:c.13070T>G	XP_011514755.1:p.Ile4357Ser
XM_011516454.1:c.12392T>G	XP_011514756.1:p.Ile4131Ser
XM_011516455.1:c.10853T>G	XP_011514757.1:p.Ile3618Ser
XM_011516456.1:c.13259T>G	XP_011514758.1:p.Ile4420Ser
XM_005250025.4:c.13307T>G	XP_005250082.1:p.Ile4436Ser
XM_005250026.3:c.13304T>G	XP_005250083.1:p.Ile4435Ser
XM_005250027.4:c.13304T>G	XP_005250084.1:p.Ile4435Ser
XM_005250028.4:c.13307T>G	XP_005250085.1:p.Ile4436Ser
XM_005250031.4:c.13142T>G	XP_005250088.1:p.Ile4381Ser
XM_006716077.3:c.13304T>G	XP_006716140.1:p.Ile4435Ser
XM_006716078.3:c.13235T>G	XP_006716141.1:p.Ile4412Ser
XM_006716079.3:c.13139T>G	XP_006716142.1:p.Ile4380Ser
XM_011516450.2:c.13259T>G	XP_011514752.1:p.Ile4420Ser
XM_011516451.2:c.13187T>G	XP_011514753.1:p.Ile4396Ser
XM_011516452.2:c.13154T>G	XP_011514754.1:p.Ile4385Ser
XM_011516453.2:c.13070T>G	XP_011514755.1:p.Ile4357Ser
XM_011516454.2:c.12392T>G	XP_011514756.1:p.Ile4131Ser
XM_011516456.2:c.13259T>G	XP_011514758.1:p.Ile4420Ser
XM_017012480.1:c.13307T>G	XP_016867969.1:p.Ile4436Ser
XM_017012481.1:c.13304T>G	XP_016867970.1:p.Ile4435Ser
XM_017012482.1:c.13304T>G	XP_016867971.1:p.Ile4435Ser
XM_017012483.1:c.13304T>G	XP_016867972.1:p.Ile4435Ser
XM_017012484.1:c.13274T>G	XP_016867973.1:p.Ile4425Ser
XM_017012485.1:c.13256T>G	XP_016867974.1:p.Ile4419Ser
XM_017012486.1:c.13232T>G	XP_016867975.1:p.Ile4411Ser
XM_017012487.1:c.13160T>G	XP_016867976.1:p.Ile4387Ser
XM_017012488.1:c.13124T>G	XP_016867977.1:p.Ile4375Ser
XM_017012489.1:c.9977T>G	XP_016867978.1:p.Ile3326Ser
XM_017012490.2:c.9581T>G	XP_016867979.1:p.Ile3194Ser
XM_024446852.1:c.13304T>G	XP_024302620.1:p.Ile4435Ser
XM_024446853.1:c.13232T>G	XP_024302621.1:p.Ile4411Ser
NM_170606.3:c.13091T>G MANE Select	NP_733751.2:p.Ile4364Ser