Canonical Allele Identifier: CA121636
Gene: EFNB1 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.68839729A>G
GRCh37 chrX:g.68059572A>G
Revel Score:
ENST00000204961 (MANE Select) 0.868
ClinVar RCV:
RCV000012477
ClinVar Variation:
11711
dbSNP:
28936071
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68839729A>G , CM000685.2:g.68839729A>G GRCh38
NC_000023.10:g.68059572A>G , CM000685.1:g.68059572A>G GRCh37
NC_000023.9:g.67976297A>G NCBI36
NG_008887.1:g.15733A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.472A>G MANE Select ENSP00000204961.4:p.Met158Val
ENST00000204961.4:c.472A>G ENSP00000204961.4:p.Met158Val
NM_004429.4:c.472A>G NP_004420.1:p.Met158Val
NM_004429.5:c.472A>G MANE Select NP_004420.1:p.Met158Val
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