Canonical Allele Identifier: CA6545841
Community Standard Title: NM_003482.4(KMT2D):c.14016G>C (p.Lys4672Asn)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49029460C>G , CM000674.2:g.49029460C>G GRCh38
NC_000012.11:g.49423243C>G , CM000674.1:g.49423243C>G GRCh37
NC_000012.10:g.47709510C>G NCBI36
NG_027827.1:g.30865G>C

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.14016G>C MANE Select NP_003473.3:p.Lys4672Asn
ENST00000301067.12:c.14016G>C MANE Select ENSP00000301067.7:p.Lys4672Asn
NM_003482.3:c.14016G>C NP_003473.3:p.Lys4672Asn
ENST00000301067.11:c.14016G>C ENSP00000301067.7:p.Lys4672Asn
ENST00000552391.2:n.877G>C
ENST00000683543.2:c.14016G>C ENSP00000506726.1:p.Lys4672Asn
ENST00000685166.1:c.14025G>C ENSP00000509386.1:p.Lys4675Asn
ENST00000685979.1:c.279G>C ENSP00000508906.1:p.Lys93Asn
ENST00000686564.1:c.276G>C ENSP00000509290.1:p.Lys92Asn
ENST00000687241.1:c.108G>C ENSP00000509842.1:p.Lys36Asn
ENST00000691986.1:c.315G>C ENSP00000509196.1:p.Lys105Asn
ENST00000692637.1:c.14013G>C ENSP00000509666.1:p.Lys4671Asn
XM_005269162.3:c.14016G>C XP_005269219.1:p.Lys4672Asn
XM_005269162.4:c.14016G>C XP_005269219.1:p.Lys4672Asn
XM_006719614.2:c.14025G>C XP_006719677.1:p.Lys4675Asn
XM_006719614.4:c.14025G>C XP_006719677.1:p.Lys4675Asn
XM_006719616.2:c.14013G>C XP_006719679.1:p.Lys4671Asn
XM_006719616.3:c.14013G>C XP_006719679.1:p.Lys4671Asn
XM_011538770.1:c.14025G>C XP_011537072.1:p.Lys4675Asn
XM_011538770.2:c.14025G>C XP_011537072.1:p.Lys4675Asn
XM_011538771.1:c.14022G>C XP_011537073.1:p.Lys4674Asn
XM_011538771.2:c.14022G>C XP_011537073.1:p.Lys4674Asn
XM_011538772.1:c.14016G>C XP_011537074.1:p.Lys4672Asn
XM_011538772.2:c.14016G>C XP_011537074.1:p.Lys4672Asn
XM_011538773.1:c.14013G>C XP_011537075.1:p.Lys4671Asn
XM_011538773.2:c.14013G>C XP_011537075.1:p.Lys4671Asn
XM_011538774.1:c.14004G>C XP_011537076.1:p.Lys4668Asn
XM_011538774.2:c.14004G>C XP_011537076.1:p.Lys4668Asn
XM_011538775.1:c.13959G>C XP_011537077.1:p.Lys4653Asn
XM_011538776.1:c.13932G>C XP_011537078.1:p.Lys4644Asn
XM_011538776.2:c.13932G>C XP_011537078.1:p.Lys4644Asn
XR_001748874.1:n.15334G>C
XR_944740.1:n.16345G>C