Canonical Allele Identifier: CA413437042
Gene: EFNB1 HGNC NCBI

Linked Data

gnomAD v4: X-68829812-G-A
MyVariant Identifiers: chrX:g.68049655G>A (hg19) chrX:g.68829812G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829812G>A , CM000685.2:g.68829812G>A GRCh38
NC_000023.10:g.68049655G>A , CM000685.1:g.68049655G>A GRCh37
NC_000023.9:g.67966380G>A NCBI36
NG_008887.1:g.5816G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.36G>A MANE Select ENSP00000204961.4:p.Trp12Ter
ENST00000204961.4:c.36G>A ENSP00000204961.4:p.Trp12Ter
NM_004429.4:c.36G>A NP_004420.1:p.Trp12Ter
NM_004429.5:c.36G>A MANE Select NP_004420.1:p.Trp12Ter
Search 100 bp 5'
Search 100 bp 3'