Canonical Allele Identifier: CA413437326
Gene: EFNB1 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.68838649C>G
GRCh37 chrX:g.68058492C>G
Revel Score:
ENST00000204961 (MANE Select) 0.949
ClinVar RCV:
RCV000523021
ClinVar Variation:
449015
dbSNP:
104894801
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68838649C>G , CM000685.2:g.68838649C>G GRCh38
NC_000023.10:g.68058492C>G , CM000685.1:g.68058492C>G GRCh37
NC_000023.9:g.67975217C>G NCBI36
NG_008887.1:g.14653C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.161C>G MANE Select ENSP00000204961.4:p.Pro54Arg
ENST00000204961.4:c.161C>G ENSP00000204961.4:p.Pro54Arg
NM_004429.4:c.161C>G NP_004420.1:p.Pro54Arg
NM_004429.5:c.161C>G MANE Select NP_004420.1:p.Pro54Arg
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