Canonical Allele Identifier: CA378910428

Gene: EBF3

Linked Data

• ClinVar Variation Id: 488452
• ClinVar RCV Id: RCV000578419 ; RCV003237946
• dbSNP Id: rs1554934855
• gnomAD v4: 10-129957258-C-T
• MyVariant Identifiers: chr10:g.131755522C>T (hg19) ; chr10:g.129957258C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.129957258C>T , CM000672.2:g.129957258C>T	GRCh38
NC_000010.10:g.131755522C>T , CM000672.1:g.131755522C>T	GRCh37
NC_000010.9:g.131645512C>T	NCBI36
NG_030038.1:g.11570G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682649.1:n.504G>A
ENST00000355311.10:c.554G>A	ENSP00000347463.4:p.Arg185Lys
ENST00000368648.8:c.554G>A	ENSP00000357637.3:p.Arg185Lys
ENST00000440978.2:c.554G>A MANE Select	ENSP00000387543.2:p.Arg185Lys
ENST00000675373.1:n.226G>A
ENST00000355311.9:c.554G>A	ENSP00000347463.4:p.Arg185Lys
ENST00000368648.7:c.554G>A	ENSP00000357637.3:p.Arg185Lys
NM_001005463.2:c.554G>A	NP_001005463.1:p.Arg185Lys
XM_005252667.2:c.554G>A	XP_005252724.1:p.Arg185Lys
XM_005252668.2:c.554G>A	XP_005252725.1:p.Arg185Lys
XM_005252669.2:c.554G>A	XP_005252726.1:p.Arg185Lys
XM_006717739.2:c.554G>A	XP_006717802.1:p.Arg185Lys
XM_006717740.2:c.554G>A	XP_006717803.1:p.Arg185Lys
XM_006717741.2:c.554G>A	XP_006717804.1:p.Arg185Lys
XM_006717742.2:c.554G>A	XP_006717805.1:p.Arg185Lys
XM_006717743.2:c.554G>A	XP_006717806.1:p.Arg185Lys
XM_006717744.2:c.554G>A	XP_006717807.1:p.Arg185Lys
XM_011539574.1:c.554G>A	XP_011537876.1:p.Arg185Lys
XM_011539576.1:c.554G>A	XP_011537878.1:p.Arg185Lys
XM_005252667.3:c.554G>A	XP_005252724.1:p.Arg185Lys
XM_005252668.3:c.554G>A	XP_005252725.1:p.Arg185Lys
XM_005252669.3:c.554G>A	XP_005252726.1:p.Arg185Lys
XM_006717739.3:c.554G>A	XP_006717802.1:p.Arg185Lys
XM_006717740.3:c.554G>A	XP_006717803.1:p.Arg185Lys
XM_006717741.3:c.554G>A	XP_006717804.1:p.Arg185Lys
XM_006717742.3:c.554G>A	XP_006717805.1:p.Arg185Lys
XM_006717743.3:c.554G>A	XP_006717806.1:p.Arg185Lys
XM_006717744.3:c.554G>A	XP_006717807.1:p.Arg185Lys
XM_011539574.2:c.554G>A	XP_011537876.1:p.Arg185Lys
XM_017016027.1:c.554G>A	XP_016871516.1:p.Arg185Lys
XR_001747076.1:n.1060G>A
NM_001005463.3:c.554G>A	NP_001005463.1:p.Arg185Lys
NM_001375379.1:c.554G>A	NP_001362308.1:p.Arg185Lys
NM_001375380.1:c.554G>A MANE Select	NP_001362309.1:p.Arg185Lys
NM_001375389.1:c.554G>A	NP_001362318.1:p.Arg185Lys
NM_001375390.1:c.554G>A	NP_001362319.1:p.Arg185Lys
NM_001375391.1:c.554G>A	NP_001362320.1:p.Arg185Lys
NM_001375392.1:c.554G>A	NP_001362321.1:p.Arg185Lys