Canonical Allele Identifier: CA2693969631
Gene: EFNB1 HGNC NCBI

Linked Data

gnomAD v4: X-68829922-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829922T>A , CM000685.2:g.68829922T>A GRCh38
NC_000023.10:g.68049765T>A , CM000685.1:g.68049765T>A GRCh37
NC_000023.9:g.67966490T>A NCBI36
NG_008887.1:g.5926T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.128+18T>A MANE Select ENSP00000204961.4:n.128+18T>A
ENST00000204961.4:c.128+18T>A ENSP00000204961.4:n.128+18T>A
NM_004429.4:c.128+18T>A NP_004420.1:n.128+18T>A
NM_004429.5:c.128+18T>A MANE Select NP_004420.1:n.128+18T>A