Canonical Allele Identifier: CA413437179
Gene: EFNB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829877C>A , CM000685.2:g.68829877C>A GRCh38
NC_000023.10:g.68049720C>A , CM000685.1:g.68049720C>A GRCh37
NC_000023.9:g.67966445C>A NCBI36
NG_008887.1:g.5881C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.101C>A MANE Select ENSP00000204961.4:p.Pro34His
ENST00000204961.4:c.101C>A ENSP00000204961.4:p.Pro34His
NM_004429.4:c.101C>A NP_004420.1:p.Pro34His
NM_004429.5:c.101C>A MANE Select NP_004420.1:p.Pro34His