Canonical Allele Identifier: CA2693969531
Gene: EFNB1 HGNC NCBI

Linked Data

gnomAD v4: X-68829648-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829648A>T , CM000685.2:g.68829648A>T GRCh38
NC_000023.10:g.68049491A>T , CM000685.1:g.68049491A>T GRCh37
NC_000023.9:g.67966216A>T NCBI36
NG_008887.1:g.5652A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.-129A>T MANE Select ENSP00000204961.4:n.-129A>T
ENST00000204961.4:c.-129A>T ENSP00000204961.4:n.-129A>T
NM_004429.4:c.-129A>T NP_004420.1:n.-129A>T
NM_004429.5:c.-129A>T MANE Select NP_004420.1:n.-129A>T