Canonical Allele Identifier: CA642410855
Gene: EFNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1247664000
gnomAD v2: X-68049935-C-G
gnomAD v3: X-68830092-C-G
gnomAD v4: X-68830092-C-G
MyVariant Identifiers: chrX:g.68049935C>G (hg19) chrX:g.68830092C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68830092C>G , CM000685.2:g.68830092C>G GRCh38
NC_000023.10:g.68049935C>G , CM000685.1:g.68049935C>G GRCh37
NC_000023.9:g.67966660C>G NCBI36
NG_008887.1:g.6096C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.128+188C>G MANE Select ENSP00000204961.4:n.128+188C>G
ENST00000204961.4:c.128+188C>G ENSP00000204961.4:n.128+188C>G
NM_004429.4:c.128+188C>G NP_004420.1:n.128+188C>G
NM_004429.5:c.128+188C>G MANE Select NP_004420.1:n.128+188C>G
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