Canonical Allele Identifier: CA384677028

Gene: KMT2D

Linked Data

• dbSNP Id: rs1188405126
• gnomAD v4: 12-49022333-G-C
• MyVariant Identifiers: chr12:g.49416116G>C (hg19) ; chr12:g.49022333G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022333G>C , CM000674.2:g.49022333G>C	GRCh38
NC_000012.11:g.49416116G>C , CM000674.1:g.49416116G>C	GRCh37
NC_000012.10:g.47702383G>C	NCBI36
NG_027827.1:g.37992C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.329C>G
ENST00000681974.1:n.1031C>G
ENST00000682693.1:n.1993C>G
ENST00000682886.1:n.765C>G
ENST00000683543.2:c.16407C>G	ENSP00000506726.1:p.Phe5469Leu
ENST00000683988.1:c.330C>G	ENSP00000506939.1:p.Phe110Leu
ENST00000684428.1:c.952C>G	ENSP00000507433.1:p.Pro318Ala
ENST00000685024.1:c.1513C>G
ENST00000685166.1:c.16368C>G	ENSP00000509386.1:p.Phe5456Leu
ENST00000691932.1:c.360C>G	ENSP00000509037.1:p.Phe120Leu
ENST00000692637.1:c.16356C>G	ENSP00000509666.1:p.Phe5452Leu
ENST00000301067.12:c.16359C>G MANE Select	ENSP00000301067.7:p.Phe5453Leu
ENST00000301067.11:c.16359C>G	ENSP00000301067.7:p.Phe5453Leu
ENST00000526209.1:c.402C>G	ENSP00000435714.1:p.Phe134Leu
NM_003482.3:c.16359C>G	NP_003473.3:p.Phe5453Leu
XM_005269162.3:c.16359C>G	XP_005269219.1:p.Phe5453Leu
XM_006719614.2:c.16368C>G	XP_006719677.1:p.Phe5456Leu
XM_006719616.2:c.16356C>G	XP_006719679.1:p.Phe5452Leu
XM_011538770.1:c.16416C>G	XP_011537072.1:p.Phe5472Leu
XM_011538771.1:c.16413C>G	XP_011537073.1:p.Phe5471Leu
XM_011538772.1:c.16407C>G	XP_011537074.1:p.Phe5469Leu
XM_011538773.1:c.16404C>G	XP_011537075.1:p.Phe5468Leu
XM_011538774.1:c.16395C>G	XP_011537076.1:p.Phe5465Leu
XM_011538775.1:c.16350C>G	XP_011537077.1:p.Phe5450Leu
XM_011538776.1:c.16323C>G	XP_011537078.1:p.Phe5441Leu
XM_005269162.4:c.16359C>G	XP_005269219.1:p.Phe5453Leu
XM_006719614.4:c.16368C>G	XP_006719677.1:p.Phe5456Leu
XM_006719616.3:c.16356C>G	XP_006719679.1:p.Phe5452Leu
XM_011538770.2:c.16416C>G	XP_011537072.1:p.Phe5472Leu
XM_011538771.2:c.16413C>G	XP_011537073.1:p.Phe5471Leu
XM_011538772.2:c.16407C>G	XP_011537074.1:p.Phe5469Leu
XM_011538773.2:c.16404C>G	XP_011537075.1:p.Phe5468Leu
XM_011538774.2:c.16395C>G	XP_011537076.1:p.Phe5465Leu
XM_011538776.2:c.16323C>G	XP_011537078.1:p.Phe5441Leu
XR_001748874.1:n.16536C>G
NM_003482.4:c.16359C>G MANE Select	NP_003473.3:p.Phe5453Leu