Canonical Allele Identifier: CA888812

Gene: EFCAB7 ITGB3BP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63525747C>A , CM000663.2:g.63525747C>A	GRCh38
NC_000001.10:g.63991418C>A , CM000663.1:g.63991418C>A	GRCh37
NC_000001.9:g.63764006C>A	NCBI36
NG_030011.1:g.2527G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371088.5:c.175C>A (EFCAB7) MANE Select	ENSP00000360129.4:p.Gln59Lys
ENST00000371088.4:c.175C>A (EFCAB7)	ENSP00000360129.4:p.Gln59Lys
ENST00000478138.1:n.345+2132G>T (ITGB3BP)
ENST00000480886.1:n.374C>A (EFCAB7)
NM_032437.3:c.175C>A (EFCAB7)	NP_115813.2:p.Gln59Lys
XM_005271274.2:c.175C>A (EFCAB7)	XP_005271331.1:p.Gln59Lys
XM_006710976.2:c.214C>A (EFCAB7)	XP_006711039.1:p.Gln72Lys
XM_006710977.1:c.175C>A (EFCAB7)	XP_006711040.1:p.Gln59Lys
XM_011541131.1:c.-116+3384G>T (ITGB3BP)	XP_011539433.1:n.-116+3384G>T
XM_011542301.1:c.214C>A (EFCAB7)	XP_011540603.1:p.Gln72Lys
XM_011542302.1:c.214C>A (EFCAB7)	XP_011540604.1:p.Gln72Lys
XR_946779.1:n.265C>A (EFCAB7)
XR_946780.1:n.265C>A (EFCAB7)
XR_946781.1:n.265C>A (EFCAB7)
XM_005271274.4:c.175C>A (EFCAB7)	XP_005271331.1:p.Gln59Lys
XM_006710976.3:c.214C>A (EFCAB7)	XP_006711039.1:p.Gln72Lys
XM_011542301.2:c.214C>A (EFCAB7)	XP_011540603.1:p.Gln72Lys
XM_017002548.1:c.214C>A (EFCAB7)	XP_016858037.1:p.Gln72Lys
XM_024446042.1:c.-116+3384G>T (ITGB3BP)	XP_024301810.1:n.-116+3384G>T
XR_001737486.2:n.439C>A (EFCAB7)
XR_001737487.2:n.439C>A (EFCAB7)
XR_001737488.1:n.265C>A (EFCAB7)
XR_002957809.1:n.439C>A (EFCAB7)
XR_946779.3:n.265C>A (EFCAB7)
NM_032437.4:c.175C>A (EFCAB7) MANE Select	NP_115813.2:p.Gln59Lys