Canonical Allele Identifier: CA877662498
Gene: EFNB1 HGNC NCBI

Linked Data

dbSNP Id: rs144357594
gnomAD v3: X-68830124-C-T
gnomAD v4: X-68830124-C-T
MyVariant Identifiers: chrX:g.68049967C>T (hg19) chrX:g.68830124C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68830124C>T , CM000685.2:g.68830124C>T GRCh38
NC_000023.10:g.68049967C>T , CM000685.1:g.68049967C>T GRCh37
NC_000023.9:g.67966692C>T NCBI36
NG_008887.1:g.6128C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.128+220C>T MANE Select ENSP00000204961.4:n.128+220C>T
ENST00000204961.4:c.128+220C>T ENSP00000204961.4:n.128+220C>T
NM_004429.4:c.128+220C>T NP_004420.1:n.128+220C>T
NM_004429.5:c.128+220C>T MANE Select NP_004420.1:n.128+220C>T
Search 100 bp 5'
Search 100 bp 3'