Canonical Allele Identifier: CA642410819

Gene: EFNB1

Linked Data

• dbSNP Id: rs1481985759
• gnomAD v2: X-68049768-G-A
• gnomAD v4: X-68829925-G-A
• MyVariant Identifiers: chrX:g.68049768G>A (hg19) ; chrX:g.68829925G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68829925G>A , CM000685.2:g.68829925G>A	GRCh38
NC_000023.10:g.68049768G>A , CM000685.1:g.68049768G>A	GRCh37
NC_000023.9:g.67966493G>A	NCBI36
NG_008887.1:g.5929G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000204961.5:c.128+21G>A MANE Select	ENSP00000204961.4:n.128+21G>A
ENST00000204961.4:c.128+21G>A	ENSP00000204961.4:n.128+21G>A
NM_004429.4:c.128+21G>A	NP_004420.1:n.128+21G>A
NM_004429.5:c.128+21G>A MANE Select	NP_004420.1:n.128+21G>A