Canonical Allele Identifier: CA4578672

Gene: KMT2C

Linked Data

• dbSNP Id: rs767968866
• ExAC: 7:151845919 C / A
• gnomAD v2: 7-151845919-C-A
• gnomAD v3: 7-152148834-C-A
• gnomAD v4: 7-152148834-C-A
• MyVariant Identifiers: chr7:g.151845919C>A (hg19) ; chr7:g.152148834C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148834C>A , CM000669.2:g.152148834C>A	GRCh38
NC_000007.13:g.151845919C>A , CM000669.1:g.151845919C>A	GRCh37
NC_000007.12:g.151476852C>A	NCBI36
NG_033948.1:g.292172G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1281G>T
ENST00000682116.1:n.2225G>T
ENST00000682283.1:c.13264G>T	ENSP00000507485.1:p.Val4422Leu
ENST00000682629.1:n.2393G>T
ENST00000683120.1:n.8285G>T
ENST00000683178.1:c.3666G>T
ENST00000683200.1:c.10603G>T	ENSP00000508052.1:p.Val3535Leu
ENST00000683337.1:n.4723G>T
ENST00000683502.1:c.3738G>T
ENST00000683621.1:n.1859G>T
ENST00000683640.1:n.1809G>T
ENST00000684069.1:c.1510G>T	ENSP00000507650.1:p.Val504Leu
ENST00000684261.1:c.7990G>T	ENSP00000508097.1:p.Val2664Leu
ENST00000684649.1:c.3738G>T
ENST00000262189.11:c.13093G>T MANE Select	ENSP00000262189.6:p.Val4365Leu
ENST00000360104.8:c.8880G>T
ENST00000418061.2:c.3735G>T
ENST00000424877.6:c.3669G>T
ENST00000679393.1:n.7804G>T
ENST00000679560.1:c.7993G>T	ENSP00000505094.1:p.Val2665Leu
ENST00000679882.1:c.12658G>T	ENSP00000506154.1:p.Val4220Leu
ENST00000680029.1:c.3670G>T
ENST00000680877.1:c.7993G>T	ENSP00000505724.1:p.Val2665Leu
ENST00000681923.1:n.2108G>T
ENST00000262189.10:c.13093G>T	ENSP00000262189.6:p.Val4365Leu
ENST00000355193.6:c.13093G>T	ENSP00000347325.3:p.Val4365Leu
ENST00000360104.7:c.5774G>T
ENST00000424877.5:c.2944G>T	ENSP00000410411.1:p.Val982Leu
ENST00000473186.5:n.10975G>T
ENST00000558084.5:c.*10613G>T	ENSP00000453752.1:n.*10613G>T
NM_170606.2:c.13093G>T	NP_733751.2:p.Val4365Leu
XM_005250025.3:c.13309G>T	XP_005250082.1:p.Val4437Leu
XM_005250026.2:c.13306G>T	XP_005250083.1:p.Val4436Leu
XM_005250027.3:c.13306G>T	XP_005250084.1:p.Val4436Leu
XM_005250028.3:c.13309G>T	XP_005250085.1:p.Val4437Leu
XM_005250031.3:c.13144G>T	XP_005250088.1:p.Val4382Leu
XM_006716077.2:c.13306G>T	XP_006716140.1:p.Val4436Leu
XM_006716078.2:c.13237G>T	XP_006716141.1:p.Val4413Leu
XM_006716079.2:c.13141G>T	XP_006716142.1:p.Val4381Leu
XM_011516450.1:c.13261G>T	XP_011514752.1:p.Val4421Leu
XM_011516451.1:c.13189G>T	XP_011514753.1:p.Val4397Leu
XM_011516452.1:c.13156G>T	XP_011514754.1:p.Val4386Leu
XM_011516453.1:c.13072G>T	XP_011514755.1:p.Val4358Leu
XM_011516454.1:c.12394G>T	XP_011514756.1:p.Val4132Leu
XM_011516455.1:c.10855G>T	XP_011514757.1:p.Val3619Leu
XM_011516456.1:c.13261G>T	XP_011514758.1:p.Val4421Leu
XM_005250025.4:c.13309G>T	XP_005250082.1:p.Val4437Leu
XM_005250026.3:c.13306G>T	XP_005250083.1:p.Val4436Leu
XM_005250027.4:c.13306G>T	XP_005250084.1:p.Val4436Leu
XM_005250028.4:c.13309G>T	XP_005250085.1:p.Val4437Leu
XM_005250031.4:c.13144G>T	XP_005250088.1:p.Val4382Leu
XM_006716077.3:c.13306G>T	XP_006716140.1:p.Val4436Leu
XM_006716078.3:c.13237G>T	XP_006716141.1:p.Val4413Leu
XM_006716079.3:c.13141G>T	XP_006716142.1:p.Val4381Leu
XM_011516450.2:c.13261G>T	XP_011514752.1:p.Val4421Leu
XM_011516451.2:c.13189G>T	XP_011514753.1:p.Val4397Leu
XM_011516452.2:c.13156G>T	XP_011514754.1:p.Val4386Leu
XM_011516453.2:c.13072G>T	XP_011514755.1:p.Val4358Leu
XM_011516454.2:c.12394G>T	XP_011514756.1:p.Val4132Leu
XM_011516456.2:c.13261G>T	XP_011514758.1:p.Val4421Leu
XM_017012480.1:c.13309G>T	XP_016867969.1:p.Val4437Leu
XM_017012481.1:c.13306G>T	XP_016867970.1:p.Val4436Leu
XM_017012482.1:c.13306G>T	XP_016867971.1:p.Val4436Leu
XM_017012483.1:c.13306G>T	XP_016867972.1:p.Val4436Leu
XM_017012484.1:c.13276G>T	XP_016867973.1:p.Val4426Leu
XM_017012485.1:c.13258G>T	XP_016867974.1:p.Val4420Leu
XM_017012486.1:c.13234G>T	XP_016867975.1:p.Val4412Leu
XM_017012487.1:c.13162G>T	XP_016867976.1:p.Val4388Leu
XM_017012488.1:c.13126G>T	XP_016867977.1:p.Val4376Leu
XM_017012489.1:c.9979G>T	XP_016867978.1:p.Val3327Leu
XM_017012490.2:c.9583G>T	XP_016867979.1:p.Val3195Leu
XM_024446852.1:c.13306G>T	XP_024302620.1:p.Val4436Leu
XM_024446853.1:c.13234G>T	XP_024302621.1:p.Val4412Leu
NM_170606.3:c.13093G>T MANE Select	NP_733751.2:p.Val4365Leu