Canonical Allele Identifier: CA2693969638
Gene: EFNB1 HGNC NCBI

Linked Data

gnomAD v4: X-68829958-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829958A>G , CM000685.2:g.68829958A>G GRCh38
NC_000023.10:g.68049801A>G , CM000685.1:g.68049801A>G GRCh37
NC_000023.9:g.67966526A>G NCBI36
NG_008887.1:g.5962A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.128+54A>G MANE Select ENSP00000204961.4:n.128+54A>G
ENST00000204961.4:c.128+54A>G ENSP00000204961.4:n.128+54A>G
NM_004429.4:c.128+54A>G NP_004420.1:n.128+54A>G
NM_004429.5:c.128+54A>G MANE Select NP_004420.1:n.128+54A>G