Canonical Allele Identifier: CA10438095
Gene: EFNB1 HGNC NCBI

Linked Data

dbSNP Id: rs760982643
ExAC: X:68049631 T / A
gnomAD v2: X-68049631-T-A
gnomAD v3: X-68829788-T-A
gnomAD v4: X-68829788-T-A
MyVariant Identifiers: chrX:g.68049631T>A (hg19) chrX:g.68829788T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829788T>A , CM000685.2:g.68829788T>A GRCh38
NC_000023.10:g.68049631T>A , CM000685.1:g.68049631T>A GRCh37
NC_000023.9:g.67966356T>A NCBI36
NG_008887.1:g.5792T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.12T>A MANE Select ENSP00000204961.4:p.Pro4=
ENST00000204961.4:c.12T>A ENSP00000204961.4:p.Pro4=
NM_004429.4:c.12T>A NP_004420.1:p.Pro4=
NM_004429.5:c.12T>A MANE Select NP_004420.1:p.Pro4=
Search 100 bp 5'
Search 100 bp 3'