Canonical Allele Identifier: CA642410841
Gene: EFNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1276453959
gnomAD v2: X-68049815-G-A
gnomAD v3: X-68829972-G-A
gnomAD v4: X-68829972-G-A
MyVariant Identifiers: chrX:g.68049815G>A (hg19) chrX:g.68829972G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829972G>A , CM000685.2:g.68829972G>A GRCh38
NC_000023.10:g.68049815G>A , CM000685.1:g.68049815G>A GRCh37
NC_000023.9:g.67966540G>A NCBI36
NG_008887.1:g.5976G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.128+68G>A MANE Select ENSP00000204961.4:n.128+68G>A
ENST00000204961.4:c.128+68G>A ENSP00000204961.4:n.128+68G>A
NM_004429.4:c.128+68G>A NP_004420.1:n.128+68G>A
NM_004429.5:c.128+68G>A MANE Select NP_004420.1:n.128+68G>A
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