Canonical Allele Identifier: CA2579632094
Gene: EFNB1 HGNC NCBI

Linked Data

gnomAD v4: X-68829678-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829678C>A , CM000685.2:g.68829678C>A GRCh38
NC_000023.10:g.68049521C>A , CM000685.1:g.68049521C>A GRCh37
NC_000023.9:g.67966246C>A NCBI36
NG_008887.1:g.5682C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.-99C>A MANE Select ENSP00000204961.4:n.-99C>A
ENST00000204961.4:c.-99C>A ENSP00000204961.4:n.-99C>A
NM_004429.4:c.-99C>A NP_004420.1:n.-99C>A
NM_004429.5:c.-99C>A MANE Select NP_004420.1:n.-99C>A