Canonical Allele Identifier: CA2579632108
Gene: EFNB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829970C>A , CM000685.2:g.68829970C>A GRCh38
NC_000023.10:g.68049813C>A , CM000685.1:g.68049813C>A GRCh37
NC_000023.9:g.67966538C>A NCBI36
NG_008887.1:g.5974C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.128+66C>A MANE Select ENSP00000204961.4:n.128+66C>A
ENST00000204961.4:c.128+66C>A ENSP00000204961.4:n.128+66C>A
NM_004429.4:c.128+66C>A NP_004420.1:n.128+66C>A
NM_004429.5:c.128+66C>A MANE Select NP_004420.1:n.128+66C>A
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