Canonical Allele Identifier: CA458884887

Gene: KMT2C

Linked Data

• dbSNP Id: rs1355031213
• gnomAD v2: 7-151845944-T-C
• gnomAD v4: 7-152148859-T-C
• MyVariant Identifiers: chr7:g.151845944T>C (hg19) ; chr7:g.152148859T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148859T>C , CM000669.2:g.152148859T>C	GRCh38
NC_000007.13:g.151845944T>C , CM000669.1:g.151845944T>C	GRCh37
NC_000007.12:g.151476877T>C	NCBI36
NG_033948.1:g.292147A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1256A>G
ENST00000682116.1:n.2200A>G
ENST00000682283.1:c.13239A>G	ENSP00000507485.1:p.Lys4413=
ENST00000682629.1:n.2368A>G
ENST00000683120.1:n.8260A>G
ENST00000683178.1:c.3641A>G
ENST00000683200.1:c.10578A>G	ENSP00000508052.1:p.Lys3526=
ENST00000683337.1:n.4698A>G
ENST00000683502.1:c.3713A>G
ENST00000683621.1:n.1834A>G
ENST00000683640.1:n.1784A>G
ENST00000684069.1:c.1485A>G	ENSP00000507650.1:p.Lys495=
ENST00000684261.1:c.7965A>G	ENSP00000508097.1:p.Lys2655=
ENST00000684649.1:c.3713A>G
ENST00000262189.11:c.13068A>G MANE Select	ENSP00000262189.6:p.Lys4356=
ENST00000360104.8:c.8855A>G
ENST00000418061.2:c.3710A>G
ENST00000424877.6:c.3644A>G
ENST00000679393.1:n.7779A>G
ENST00000679560.1:c.7968A>G	ENSP00000505094.1:p.Lys2656=
ENST00000679882.1:c.12633A>G	ENSP00000506154.1:p.Lys4211=
ENST00000680029.1:c.3645A>G
ENST00000680877.1:c.7968A>G	ENSP00000505724.1:p.Lys2656=
ENST00000681923.1:n.2083A>G
ENST00000262189.10:c.13068A>G	ENSP00000262189.6:p.Lys4356=
ENST00000355193.6:c.13068A>G	ENSP00000347325.3:p.Lys4356=
ENST00000360104.7:c.5749A>G
ENST00000424877.5:c.2919A>G	ENSP00000410411.1:p.Lys973=
ENST00000473186.5:n.10950A>G
ENST00000558084.5:c.*10588A>G	ENSP00000453752.1:n.*10588A>G
NM_170606.2:c.13068A>G	NP_733751.2:p.Lys4356=
XM_005250025.3:c.13284A>G	XP_005250082.1:p.Lys4428=
XM_005250026.2:c.13281A>G	XP_005250083.1:p.Lys4427=
XM_005250027.3:c.13281A>G	XP_005250084.1:p.Lys4427=
XM_005250028.3:c.13284A>G	XP_005250085.1:p.Lys4428=
XM_005250031.3:c.13119A>G	XP_005250088.1:p.Lys4373=
XM_006716077.2:c.13281A>G	XP_006716140.1:p.Lys4427=
XM_006716078.2:c.13212A>G	XP_006716141.1:p.Lys4404=
XM_006716079.2:c.13116A>G	XP_006716142.1:p.Lys4372=
XM_011516450.1:c.13236A>G	XP_011514752.1:p.Lys4412=
XM_011516451.1:c.13164A>G	XP_011514753.1:p.Lys4388=
XM_011516452.1:c.13131A>G	XP_011514754.1:p.Lys4377=
XM_011516453.1:c.13047A>G	XP_011514755.1:p.Lys4349=
XM_011516454.1:c.12369A>G	XP_011514756.1:p.Lys4123=
XM_011516455.1:c.10830A>G	XP_011514757.1:p.Lys3610=
XM_011516456.1:c.13236A>G	XP_011514758.1:p.Lys4412=
XM_005250025.4:c.13284A>G	XP_005250082.1:p.Lys4428=
XM_005250026.3:c.13281A>G	XP_005250083.1:p.Lys4427=
XM_005250027.4:c.13281A>G	XP_005250084.1:p.Lys4427=
XM_005250028.4:c.13284A>G	XP_005250085.1:p.Lys4428=
XM_005250031.4:c.13119A>G	XP_005250088.1:p.Lys4373=
XM_006716077.3:c.13281A>G	XP_006716140.1:p.Lys4427=
XM_006716078.3:c.13212A>G	XP_006716141.1:p.Lys4404=
XM_006716079.3:c.13116A>G	XP_006716142.1:p.Lys4372=
XM_011516450.2:c.13236A>G	XP_011514752.1:p.Lys4412=
XM_011516451.2:c.13164A>G	XP_011514753.1:p.Lys4388=
XM_011516452.2:c.13131A>G	XP_011514754.1:p.Lys4377=
XM_011516453.2:c.13047A>G	XP_011514755.1:p.Lys4349=
XM_011516454.2:c.12369A>G	XP_011514756.1:p.Lys4123=
XM_011516456.2:c.13236A>G	XP_011514758.1:p.Lys4412=
XM_017012480.1:c.13284A>G	XP_016867969.1:p.Lys4428=
XM_017012481.1:c.13281A>G	XP_016867970.1:p.Lys4427=
XM_017012482.1:c.13281A>G	XP_016867971.1:p.Lys4427=
XM_017012483.1:c.13281A>G	XP_016867972.1:p.Lys4427=
XM_017012484.1:c.13251A>G	XP_016867973.1:p.Lys4417=
XM_017012485.1:c.13233A>G	XP_016867974.1:p.Lys4411=
XM_017012486.1:c.13209A>G	XP_016867975.1:p.Lys4403=
XM_017012487.1:c.13137A>G	XP_016867976.1:p.Lys4379=
XM_017012488.1:c.13101A>G	XP_016867977.1:p.Lys4367=
XM_017012489.1:c.9954A>G	XP_016867978.1:p.Lys3318=
XM_017012490.2:c.9558A>G	XP_016867979.1:p.Lys3186=
XM_024446852.1:c.13281A>G	XP_024302620.1:p.Lys4427=
XM_024446853.1:c.13209A>G	XP_024302621.1:p.Lys4403=
NM_170606.3:c.13068A>G MANE Select	NP_733751.2:p.Lys4356=