Canonical Allele Identifier: CA370093119

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151845892G>C (hg19) ; chr7:g.152148807G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148807G>C , CM000669.2:g.152148807G>C	GRCh38
NC_000007.13:g.151845892G>C , CM000669.1:g.151845892G>C	GRCh37
NC_000007.12:g.151476825G>C	NCBI36
NG_033948.1:g.292199C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1308C>G
ENST00000682116.1:n.2252C>G
ENST00000682283.1:c.13291C>G	ENSP00000507485.1:p.Pro4431Ala
ENST00000682629.1:n.2420C>G
ENST00000683120.1:n.8312C>G
ENST00000683178.1:c.3693C>G
ENST00000683200.1:c.10630C>G	ENSP00000508052.1:p.Pro3544Ala
ENST00000683337.1:n.4750C>G
ENST00000683502.1:c.3765C>G
ENST00000683621.1:n.1886C>G
ENST00000683640.1:n.1836C>G
ENST00000684069.1:c.1537C>G	ENSP00000507650.1:p.Pro513Ala
ENST00000684261.1:c.8017C>G	ENSP00000508097.1:p.Pro2673Ala
ENST00000684649.1:c.3765C>G
ENST00000262189.11:c.13120C>G MANE Select	ENSP00000262189.6:p.Pro4374Ala
ENST00000360104.8:c.8907C>G
ENST00000418061.2:c.3762C>G
ENST00000424877.6:c.3696C>G
ENST00000679393.1:n.7831C>G
ENST00000679560.1:c.8020C>G	ENSP00000505094.1:p.Pro2674Ala
ENST00000679882.1:c.12685C>G	ENSP00000506154.1:p.Pro4229Ala
ENST00000680029.1:c.3697C>G
ENST00000680877.1:c.8020C>G	ENSP00000505724.1:p.Pro2674Ala
ENST00000681923.1:n.2135C>G
ENST00000262189.10:c.13120C>G	ENSP00000262189.6:p.Pro4374Ala
ENST00000355193.6:c.13120C>G	ENSP00000347325.3:p.Pro4374Ala
ENST00000360104.7:c.5801C>G
ENST00000424877.5:c.2971C>G	ENSP00000410411.1:p.Pro991Ala
ENST00000473186.5:n.11002C>G
ENST00000558084.5:c.*10640C>G	ENSP00000453752.1:n.*10640C>G
NM_170606.2:c.13120C>G	NP_733751.2:p.Pro4374Ala
XM_005250025.3:c.13336C>G	XP_005250082.1:p.Pro4446Ala
XM_005250026.2:c.13333C>G	XP_005250083.1:p.Pro4445Ala
XM_005250027.3:c.13333C>G	XP_005250084.1:p.Pro4445Ala
XM_005250028.3:c.13336C>G	XP_005250085.1:p.Pro4446Ala
XM_005250031.3:c.13171C>G	XP_005250088.1:p.Pro4391Ala
XM_006716077.2:c.13333C>G	XP_006716140.1:p.Pro4445Ala
XM_006716078.2:c.13264C>G	XP_006716141.1:p.Pro4422Ala
XM_006716079.2:c.13168C>G	XP_006716142.1:p.Pro4390Ala
XM_011516450.1:c.13288C>G	XP_011514752.1:p.Pro4430Ala
XM_011516451.1:c.13216C>G	XP_011514753.1:p.Pro4406Ala
XM_011516452.1:c.13183C>G	XP_011514754.1:p.Pro4395Ala
XM_011516453.1:c.13099C>G	XP_011514755.1:p.Pro4367Ala
XM_011516454.1:c.12421C>G	XP_011514756.1:p.Pro4141Ala
XM_011516455.1:c.10882C>G	XP_011514757.1:p.Pro3628Ala
XM_011516456.1:c.13288C>G	XP_011514758.1:p.Pro4430Ala
XM_005250025.4:c.13336C>G	XP_005250082.1:p.Pro4446Ala
XM_005250026.3:c.13333C>G	XP_005250083.1:p.Pro4445Ala
XM_005250027.4:c.13333C>G	XP_005250084.1:p.Pro4445Ala
XM_005250028.4:c.13336C>G	XP_005250085.1:p.Pro4446Ala
XM_005250031.4:c.13171C>G	XP_005250088.1:p.Pro4391Ala
XM_006716077.3:c.13333C>G	XP_006716140.1:p.Pro4445Ala
XM_006716078.3:c.13264C>G	XP_006716141.1:p.Pro4422Ala
XM_006716079.3:c.13168C>G	XP_006716142.1:p.Pro4390Ala
XM_011516450.2:c.13288C>G	XP_011514752.1:p.Pro4430Ala
XM_011516451.2:c.13216C>G	XP_011514753.1:p.Pro4406Ala
XM_011516452.2:c.13183C>G	XP_011514754.1:p.Pro4395Ala
XM_011516453.2:c.13099C>G	XP_011514755.1:p.Pro4367Ala
XM_011516454.2:c.12421C>G	XP_011514756.1:p.Pro4141Ala
XM_011516456.2:c.13288C>G	XP_011514758.1:p.Pro4430Ala
XM_017012480.1:c.13336C>G	XP_016867969.1:p.Pro4446Ala
XM_017012481.1:c.13333C>G	XP_016867970.1:p.Pro4445Ala
XM_017012482.1:c.13333C>G	XP_016867971.1:p.Pro4445Ala
XM_017012483.1:c.13333C>G	XP_016867972.1:p.Pro4445Ala
XM_017012484.1:c.13303C>G	XP_016867973.1:p.Pro4435Ala
XM_017012485.1:c.13285C>G	XP_016867974.1:p.Pro4429Ala
XM_017012486.1:c.13261C>G	XP_016867975.1:p.Pro4421Ala
XM_017012487.1:c.13189C>G	XP_016867976.1:p.Pro4397Ala
XM_017012488.1:c.13153C>G	XP_016867977.1:p.Pro4385Ala
XM_017012489.1:c.10006C>G	XP_016867978.1:p.Pro3336Ala
XM_017012490.2:c.9610C>G	XP_016867979.1:p.Pro3204Ala
XM_024446852.1:c.13333C>G	XP_024302620.1:p.Pro4445Ala
XM_024446853.1:c.13261C>G	XP_024302621.1:p.Pro4421Ala
NM_170606.3:c.13120C>G MANE Select	NP_733751.2:p.Pro4374Ala