Canonical Allele Identifier: CA516988525
Gene: EFNB1 HGNC NCBI

Linked Data

dbSNP Id: rs2080439326
gnomAD v4: X-68829803-C-T
MyVariant Identifiers: chrX:g.68049646C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829803C>T , CM000685.2:g.68829803C>T GRCh38
NC_000023.10:g.68049646C>T , CM000685.1:g.68049646C>T GRCh37
NC_000023.9:g.67966371C>T NCBI36
NG_008887.1:g.5807C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.27C>T MANE Select ENSP00000204961.4:p.Leu9=
ENST00000204961.4:c.27C>T ENSP00000204961.4:p.Leu9=
NM_004429.4:c.27C>T NP_004420.1:p.Leu9=
NM_004429.5:c.27C>T MANE Select NP_004420.1:p.Leu9=
Search 100 bp 5'
Search 100 bp 3'