Canonical Allele Identifier: CA413436984
Gene: EFNB1 HGNC NCBI

Linked Data

gnomAD v4: X-68829786-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829786C>A , CM000685.2:g.68829786C>A GRCh38
NC_000023.10:g.68049629C>A , CM000685.1:g.68049629C>A GRCh37
NC_000023.9:g.67966354C>A NCBI36
NG_008887.1:g.5790C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000204961.5:c.10C>A MANE Select ENSP00000204961.4:p.Pro4Thr
ENST00000204961.4:c.10C>A ENSP00000204961.4:p.Pro4Thr
NM_004429.4:c.10C>A NP_004420.1:p.Pro4Thr
NM_004429.5:c.10C>A MANE Select NP_004420.1:p.Pro4Thr