Canonical Allele Identifier: CA1133959558
Gene: EFNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1028261378
gnomAD v3: X-68829652-C-T
gnomAD v4: X-68829652-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829652C>T , CM000685.2:g.68829652C>T GRCh38
NC_000023.10:g.68049495C>T , CM000685.1:g.68049495C>T GRCh37
NC_000023.9:g.67966220C>T NCBI36
NG_008887.1:g.5656C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.-125C>T MANE Select ENSP00000204961.4:n.-125C>T
ENST00000204961.4:c.-125C>T ENSP00000204961.4:n.-125C>T
NM_004429.4:c.-125C>T NP_004420.1:n.-125C>T
NM_004429.5:c.-125C>T MANE Select NP_004420.1:n.-125C>T
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Search 100 bp 3'