Canonical Allele Identifier: CA413437197
Gene: EFNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1322817
ClinVar RCV Id: RCV001783192
dbSNP Id: rs2147973166
MyVariant Identifiers: chrX:g.68049730G>A (hg19) chrX:g.68829887G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829887G>A , CM000685.2:g.68829887G>A GRCh38
NC_000023.10:g.68049730G>A , CM000685.1:g.68049730G>A GRCh37
NC_000023.9:g.67966455G>A NCBI36
NG_008887.1:g.5891G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000204961.5:c.111G>A MANE Select ENSP00000204961.4:p.Trp37Ter
ENST00000204961.4:c.111G>A ENSP00000204961.4:p.Trp37Ter
NM_004429.4:c.111G>A NP_004420.1:p.Trp37Ter
NM_004429.5:c.111G>A MANE Select NP_004420.1:p.Trp37Ter
Search 100 bp 5'
Search 100 bp 3'