Canonical Allele Identifier: CA370093089

Gene: KMT2C

Linked Data

• dbSNP Id: rs774723272
• MyVariant Identifiers: chr7:g.151845883C>T (hg19) ; chr7:g.152148798C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148798C>T , CM000669.2:g.152148798C>T	GRCh38
NC_000007.13:g.151845883C>T , CM000669.1:g.151845883C>T	GRCh37
NC_000007.12:g.151476816C>T	NCBI36
NG_033948.1:g.292208G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1317G>A
ENST00000682116.1:n.2261G>A
ENST00000682283.1:c.13300G>A	ENSP00000507485.1:p.Asp4434Asn
ENST00000682629.1:n.2429G>A
ENST00000683120.1:n.8321G>A
ENST00000683178.1:c.3702G>A
ENST00000683200.1:c.10639G>A	ENSP00000508052.1:p.Asp3547Asn
ENST00000683337.1:n.4759G>A
ENST00000683502.1:c.3774G>A
ENST00000683621.1:n.1895G>A
ENST00000683640.1:n.1845G>A
ENST00000684069.1:c.1546G>A	ENSP00000507650.1:p.Asp516Asn
ENST00000684261.1:c.8026G>A	ENSP00000508097.1:p.Asp2676Asn
ENST00000684649.1:c.3774G>A
ENST00000262189.11:c.13129G>A MANE Select	ENSP00000262189.6:p.Asp4377Asn
ENST00000360104.8:c.8916G>A
ENST00000418061.2:c.3771G>A
ENST00000424877.6:c.3705G>A
ENST00000679393.1:n.7840G>A
ENST00000679560.1:c.8029G>A	ENSP00000505094.1:p.Asp2677Asn
ENST00000679882.1:c.12694G>A	ENSP00000506154.1:p.Asp4232Asn
ENST00000680029.1:c.3706G>A
ENST00000680877.1:c.8029G>A	ENSP00000505724.1:p.Asp2677Asn
ENST00000681923.1:n.2144G>A
ENST00000262189.10:c.13129G>A	ENSP00000262189.6:p.Asp4377Asn
ENST00000355193.6:c.13129G>A	ENSP00000347325.3:p.Asp4377Asn
ENST00000360104.7:c.5810G>A
ENST00000424877.5:c.2980G>A	ENSP00000410411.1:p.Asp994Asn
ENST00000473186.5:n.11011G>A
ENST00000558084.5:c.*10649G>A	ENSP00000453752.1:n.*10649G>A
NM_170606.2:c.13129G>A	NP_733751.2:p.Asp4377Asn
XM_005250025.3:c.13345G>A	XP_005250082.1:p.Asp4449Asn
XM_005250026.2:c.13342G>A	XP_005250083.1:p.Asp4448Asn
XM_005250027.3:c.13342G>A	XP_005250084.1:p.Asp4448Asn
XM_005250028.3:c.13345G>A	XP_005250085.1:p.Asp4449Asn
XM_005250031.3:c.13180G>A	XP_005250088.1:p.Asp4394Asn
XM_006716077.2:c.13342G>A	XP_006716140.1:p.Asp4448Asn
XM_006716078.2:c.13273G>A	XP_006716141.1:p.Asp4425Asn
XM_006716079.2:c.13177G>A	XP_006716142.1:p.Asp4393Asn
XM_011516450.1:c.13297G>A	XP_011514752.1:p.Asp4433Asn
XM_011516451.1:c.13225G>A	XP_011514753.1:p.Asp4409Asn
XM_011516452.1:c.13192G>A	XP_011514754.1:p.Asp4398Asn
XM_011516453.1:c.13108G>A	XP_011514755.1:p.Asp4370Asn
XM_011516454.1:c.12430G>A	XP_011514756.1:p.Asp4144Asn
XM_011516455.1:c.10891G>A	XP_011514757.1:p.Asp3631Asn
XM_011516456.1:c.13297G>A	XP_011514758.1:p.Asp4433Asn
XM_005250025.4:c.13345G>A	XP_005250082.1:p.Asp4449Asn
XM_005250026.3:c.13342G>A	XP_005250083.1:p.Asp4448Asn
XM_005250027.4:c.13342G>A	XP_005250084.1:p.Asp4448Asn
XM_005250028.4:c.13345G>A	XP_005250085.1:p.Asp4449Asn
XM_005250031.4:c.13180G>A	XP_005250088.1:p.Asp4394Asn
XM_006716077.3:c.13342G>A	XP_006716140.1:p.Asp4448Asn
XM_006716078.3:c.13273G>A	XP_006716141.1:p.Asp4425Asn
XM_006716079.3:c.13177G>A	XP_006716142.1:p.Asp4393Asn
XM_011516450.2:c.13297G>A	XP_011514752.1:p.Asp4433Asn
XM_011516451.2:c.13225G>A	XP_011514753.1:p.Asp4409Asn
XM_011516452.2:c.13192G>A	XP_011514754.1:p.Asp4398Asn
XM_011516453.2:c.13108G>A	XP_011514755.1:p.Asp4370Asn
XM_011516454.2:c.12430G>A	XP_011514756.1:p.Asp4144Asn
XM_011516456.2:c.13297G>A	XP_011514758.1:p.Asp4433Asn
XM_017012480.1:c.13345G>A	XP_016867969.1:p.Asp4449Asn
XM_017012481.1:c.13342G>A	XP_016867970.1:p.Asp4448Asn
XM_017012482.1:c.13342G>A	XP_016867971.1:p.Asp4448Asn
XM_017012483.1:c.13342G>A	XP_016867972.1:p.Asp4448Asn
XM_017012484.1:c.13312G>A	XP_016867973.1:p.Asp4438Asn
XM_017012485.1:c.13294G>A	XP_016867974.1:p.Asp4432Asn
XM_017012486.1:c.13270G>A	XP_016867975.1:p.Asp4424Asn
XM_017012487.1:c.13198G>A	XP_016867976.1:p.Asp4400Asn
XM_017012488.1:c.13162G>A	XP_016867977.1:p.Asp4388Asn
XM_017012489.1:c.10015G>A	XP_016867978.1:p.Asp3339Asn
XM_017012490.2:c.9619G>A	XP_016867979.1:p.Asp3207Asn
XM_024446852.1:c.13342G>A	XP_024302620.1:p.Asp4448Asn
XM_024446853.1:c.13270G>A	XP_024302621.1:p.Asp4424Asn
NM_170606.3:c.13129G>A MANE Select	NP_733751.2:p.Asp4377Asn