Canonical Allele Identifier: CA121638
Gene: EFNB1 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.68829885T>G
GRCh37 chrX:g.68049728T>G
Revel Score:
ENST00000204961 (MANE Select) 0.800
ClinVar RCV:
RCV000012479
ClinVar Variation:
11713
dbSNP:
104894802
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829885T>G , CM000685.2:g.68829885T>G GRCh38
NC_000023.10:g.68049728T>G , CM000685.1:g.68049728T>G GRCh37
NC_000023.9:g.67966453T>G NCBI36
NG_008887.1:g.5889T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.109T>G MANE Select ENSP00000204961.4:p.Trp37Gly
ENST00000204961.4:c.109T>G ENSP00000204961.4:p.Trp37Gly
NM_004429.4:c.109T>G NP_004420.1:p.Trp37Gly
NM_004429.5:c.109T>G MANE Select NP_004420.1:p.Trp37Gly
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