Canonical Allele Identifier: CA2693969637
Gene: EFNB1 HGNC NCBI

Linked Data

gnomAD v4: X-68829952-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829952A>T , CM000685.2:g.68829952A>T GRCh38
NC_000023.10:g.68049795A>T , CM000685.1:g.68049795A>T GRCh37
NC_000023.9:g.67966520A>T NCBI36
NG_008887.1:g.5956A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.128+48A>T MANE Select ENSP00000204961.4:n.128+48A>T
ENST00000204961.4:c.128+48A>T ENSP00000204961.4:n.128+48A>T
NM_004429.4:c.128+48A>T NP_004420.1:n.128+48A>T
NM_004429.5:c.128+48A>T MANE Select NP_004420.1:n.128+48A>T
Search 100 bp 5'
Search 100 bp 3'