Canonical Allele Identifier: CA121637
Gene: EFNB1 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.68839731G>T
GRCh37 chrX:g.68059574G>T
Revel Score:
ENST00000204961 (MANE Select) 0.916
ClinVar RCV:
RCV000012478
ClinVar Variation:
11712
dbSNP:
28935170
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68839731G>T , CM000685.2:g.68839731G>T GRCh38
NC_000023.10:g.68059574G>T , CM000685.1:g.68059574G>T GRCh37
NC_000023.9:g.67976299G>T NCBI36
NG_008887.1:g.15735G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.474G>T MANE Select ENSP00000204961.4:p.Met158Ile
ENST00000204961.4:c.474G>T ENSP00000204961.4:p.Met158Ile
NM_004429.4:c.474G>T NP_004420.1:p.Met158Ile
NM_004429.5:c.474G>T MANE Select NP_004420.1:p.Met158Ile
Search 100 bp 5'
Search 100 bp 3'