Canonical Allele Identifier: CA413437211

Gene: EFNB1

Linked Data

• dbSNP Id: rs1311286566
• gnomAD v2: X-68049735-C-A
• gnomAD v4: X-68829892-C-A
• MyVariant Identifiers: chrX:g.68049735C>A (hg19) ; chrX:g.68829892C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68829892C>A , CM000685.2:g.68829892C>A	GRCh38
NC_000023.10:g.68049735C>A , CM000685.1:g.68049735C>A	GRCh37
NC_000023.9:g.67966460C>A	NCBI36
NG_008887.1:g.5896C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000204961.5:c.116C>A MANE Select	ENSP00000204961.4:p.Ser39Tyr
ENST00000204961.4:c.116C>A	ENSP00000204961.4:p.Ser39Tyr
NM_004429.4:c.116C>A	NP_004420.1:p.Ser39Tyr
NM_004429.5:c.116C>A MANE Select	NP_004420.1:p.Ser39Tyr