Canonical Allele Identifier: CA413438006
Gene: EFNB1 HGNC NCBI

Linked Data

dbSNP Id: rs2080471558
gnomAD v3: X-68839717-C-T
gnomAD v4: X-68839717-C-T
MyVariant Identifiers: chrX:g.68059560C>T (hg19) chrX:g.68839717C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68839717C>T , CM000685.2:g.68839717C>T GRCh38
NC_000023.10:g.68059560C>T , CM000685.1:g.68059560C>T GRCh37
NC_000023.9:g.67976285C>T NCBI36
NG_008887.1:g.15721C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.460C>T MANE Select ENSP00000204961.4:p.Arg154Cys
ENST00000204961.4:c.460C>T ENSP00000204961.4:p.Arg154Cys
NM_004429.4:c.460C>T NP_004420.1:p.Arg154Cys
NM_004429.5:c.460C>T MANE Select NP_004420.1:p.Arg154Cys
Search 100 bp 5'
Search 100 bp 3'