Canonical Allele Identifier: CA384675998

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 1308601
• ClinVar RCV Id: RCV001763513
• dbSNP Id: rs2137703769
• MyVariant Identifiers: chr12:g.49415883A>T (hg19) ; chr12:g.49022100A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022100A>T , CM000674.2:g.49022100A>T	GRCh38
NC_000012.11:g.49415883A>T , CM000674.1:g.49415883A>T	GRCh37
NC_000012.10:g.47702150A>T	NCBI36
NG_027827.1:g.38225T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.434T>A
ENST00000681974.1:n.1136T>A
ENST00000682693.1:n.2098T>A
ENST00000682886.1:n.870T>A
ENST00000683543.2:c.16512T>A	ENSP00000506726.1:p.Phe5504Leu
ENST00000683988.1:c.435T>A	ENSP00000506939.1:p.Phe145Leu
ENST00000684428.1:c.1057T>A	ENSP00000507433.1:n.1057T>A
ENST00000685024.1:c.1618T>A
ENST00000685166.1:c.16473T>A	ENSP00000509386.1:p.Phe5491Leu
ENST00000691932.1:c.465T>A	ENSP00000509037.1:p.Phe155Leu
ENST00000692637.1:c.16461T>A	ENSP00000509666.1:p.Phe5487Leu
ENST00000301067.12:c.16464T>A MANE Select	ENSP00000301067.7:p.Phe5488Leu
ENST00000301067.11:c.16464T>A	ENSP00000301067.7:p.Phe5488Leu
ENST00000526209.1:c.507T>A	ENSP00000435714.1:p.Phe169Leu
NM_003482.3:c.16464T>A	NP_003473.3:p.Phe5488Leu
XM_005269162.3:c.16464T>A	XP_005269219.1:p.Phe5488Leu
XM_006719614.2:c.16473T>A	XP_006719677.1:p.Phe5491Leu
XM_006719616.2:c.16461T>A	XP_006719679.1:p.Phe5487Leu
XM_011538770.1:c.16521T>A	XP_011537072.1:p.Phe5507Leu
XM_011538771.1:c.16518T>A	XP_011537073.1:p.Phe5506Leu
XM_011538772.1:c.16512T>A	XP_011537074.1:p.Phe5504Leu
XM_011538773.1:c.16509T>A	XP_011537075.1:p.Phe5503Leu
XM_011538774.1:c.16500T>A	XP_011537076.1:p.Phe5500Leu
XM_011538775.1:c.16455T>A	XP_011537077.1:p.Phe5485Leu
XM_011538776.1:c.16428T>A	XP_011537078.1:p.Phe5476Leu
XM_005269162.4:c.16464T>A	XP_005269219.1:p.Phe5488Leu
XM_006719614.4:c.16473T>A	XP_006719677.1:p.Phe5491Leu
XM_006719616.3:c.16461T>A	XP_006719679.1:p.Phe5487Leu
XM_011538770.2:c.16521T>A	XP_011537072.1:p.Phe5507Leu
XM_011538771.2:c.16518T>A	XP_011537073.1:p.Phe5506Leu
XM_011538772.2:c.16512T>A	XP_011537074.1:p.Phe5504Leu
XM_011538773.2:c.16509T>A	XP_011537075.1:p.Phe5503Leu
XM_011538774.2:c.16500T>A	XP_011537076.1:p.Phe5500Leu
XM_011538776.2:c.16428T>A	XP_011537078.1:p.Phe5476Leu
XR_001748874.1:n.16641T>A
NM_003482.4:c.16464T>A MANE Select	NP_003473.3:p.Phe5488Leu