Canonical Allele Identifier: CA413437003
Gene: EFNB1 HGNC NCBI

Linked Data

gnomAD v4: X-68829795-C-A
MyVariant Identifiers: chrX:g.68049638C>A (hg19) chrX:g.68829795C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829795C>A , CM000685.2:g.68829795C>A GRCh38
NC_000023.10:g.68049638C>A , CM000685.1:g.68049638C>A GRCh37
NC_000023.9:g.67966363C>A NCBI36
NG_008887.1:g.5799C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000204961.5:c.19C>A MANE Select ENSP00000204961.4:p.Arg7Ser
ENST00000204961.4:c.19C>A ENSP00000204961.4:p.Arg7Ser
NM_004429.4:c.19C>A NP_004420.1:p.Arg7Ser
NM_004429.5:c.19C>A MANE Select NP_004420.1:p.Arg7Ser
Search 100 bp 5'
Search 100 bp 3'