Canonical Allele Identifier: CA11181266
Gene: EFR3B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25150429G>A , CM000664.2:g.25150429G>A GRCh38
NC_000002.11:g.25373298G>A , CM000664.1:g.25373298G>A GRCh37
NC_000002.10:g.25226802G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000403714.8:c.2191+687G>A MANE Select ENSP00000384081.3:n.2191+687G>A
ENST00000264719.5:c.1696+687G>A ENSP00000264719.5:n.1696+687G>A
ENST00000402191.5:c.2086+687G>A ENSP00000385832.1:n.2086+687G>A
ENST00000403714.7:c.2191+687G>A ENSP00000384081.3:n.2191+687G>A
ENST00000405108.5:c.1747+687G>A ENSP00000384454.1:n.1747+687G>A
NM_014971.1:c.2191+687G>A NP_055786.1:n.2191+687G>A
XM_011532701.1:c.2164+687G>A XP_011531003.1:n.2164+687G>A
XM_011532702.1:c.2143+687G>A XP_011531004.1:n.2143+687G>A
XM_011532703.1:c.2086+687G>A XP_011531005.1:n.2086+687G>A
NM_001319099.1:c.2086+687G>A NP_001306028.1:n.2086+687G>A
XM_011532701.3:c.2164+687G>A XP_011531003.1:n.2164+687G>A
XR_001738675.2:n.2603+687G>A
NM_014971.2:c.2191+687G>A MANE Select NP_055786.1:n.2191+687G>A
NM_001319099.2:c.2086+687G>A NP_001306028.1:n.2086+687G>A
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