Canonical Allele Identifier: CA378718826

Gene: EBF3

Linked Data

• ClinVar Variation Id: 1306590
• ClinVar RCV Id: RCV001770770
• dbSNP Id: rs1406490086
• gnomAD v2: 10-131639288-T-C
• gnomAD v4: 10-129841024-T-C
• MyVariant Identifiers: chr10:g.131639288T>C (hg19) ; chr10:g.129841024T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.129841024T>C , CM000672.2:g.129841024T>C	GRCh38
NC_000010.10:g.131639288T>C , CM000672.1:g.131639288T>C	GRCh37
NC_000010.9:g.131529278T>C	NCBI36
NG_030038.1:g.127804A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355311.10:c.1381A>G	ENSP00000347463.4:p.Ser461Gly
ENST00000368648.8:c.1354A>G	ENSP00000357637.3:p.Ser452Gly
ENST00000440978.2:c.1381A>G MANE Select	ENSP00000387543.2:p.Ser461Gly
ENST00000675373.1:n.1026A>G
ENST00000355311.9:c.1381A>G	ENSP00000347463.4:p.Ser461Gly
ENST00000368648.7:c.1354A>G	ENSP00000357637.3:p.Ser452Gly
ENST00000440978.1:c.65A>G
NM_001005463.2:c.1354A>G	NP_001005463.1:p.Ser452Gly
XM_005252667.2:c.1354A>G	XP_005252724.1:p.Ser452Gly
XM_005252668.2:c.1381A>G	XP_005252725.1:p.Ser461Gly
XM_005252669.2:c.1354A>G	XP_005252726.1:p.Ser452Gly
XM_006717739.2:c.1381A>G	XP_006717802.1:p.Ser461Gly
XM_006717740.2:c.1381A>G	XP_006717803.1:p.Ser461Gly
XM_006717741.2:c.1381A>G	XP_006717804.1:p.Ser461Gly
XM_006717742.2:c.1381A>G	XP_006717805.1:p.Ser461Gly
XM_006717743.2:c.1381A>G	XP_006717806.1:p.Ser461Gly
XM_006717744.2:c.1373-690A>G	XP_006717807.1:n.1373-690A>G
XM_011539574.1:c.1096A>G	XP_011537876.1:p.Ser366Gly
XM_011539575.1:c.865A>G	XP_011537877.1:p.Ser289Gly
XM_005252667.3:c.1354A>G	XP_005252724.1:p.Ser452Gly
XM_005252668.3:c.1381A>G	XP_005252725.1:p.Ser461Gly
XM_005252669.3:c.1354A>G	XP_005252726.1:p.Ser452Gly
XM_006717739.3:c.1381A>G	XP_006717802.1:p.Ser461Gly
XM_006717740.3:c.1381A>G	XP_006717803.1:p.Ser461Gly
XM_006717741.3:c.1381A>G	XP_006717804.1:p.Ser461Gly
XM_006717742.3:c.1381A>G	XP_006717805.1:p.Ser461Gly
XM_006717743.3:c.1381A>G	XP_006717806.1:p.Ser461Gly
XM_006717744.3:c.1373-690A>G	XP_006717807.1:n.1373-690A>G
XM_011539574.2:c.1096A>G	XP_011537876.1:p.Ser366Gly
XM_011539575.2:c.865A>G	XP_011537877.1:p.Ser289Gly
XM_017016027.1:c.1373-690A>G	XP_016871516.1:n.1373-690A>G
XR_001747076.1:n.1860A>G
NM_001005463.3:c.1354A>G	NP_001005463.1:p.Ser452Gly
NM_001375379.1:c.1381A>G	NP_001362308.1:p.Ser461Gly
NM_001375380.1:c.1381A>G MANE Select	NP_001362309.1:p.Ser461Gly
NM_001375389.1:c.1381A>G	NP_001362318.1:p.Ser461Gly
NM_001375390.1:c.1354A>G	NP_001362319.1:p.Ser452Gly
NM_001375391.1:c.1381A>G	NP_001362320.1:p.Ser461Gly
NM_001375392.1:c.1346-582A>G	NP_001362321.1:n.1346-582A>G