Canonical Allele Identifier: CA10438088

Gene: EFNB1

Linked Data

• dbSNP Id: rs749239215
• ExAC: X:68049596 G / A
• gnomAD v2: X-68049596-G-A
• gnomAD v3: X-68829753-G-A
• gnomAD v4: X-68829753-G-A
• MyVariant Identifiers: chrX:g.68049596G>A (hg19) ; chrX:g.68829753G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68829753G>A , CM000685.2:g.68829753G>A	GRCh38
NC_000023.10:g.68049596G>A , CM000685.1:g.68049596G>A	GRCh37
NC_000023.9:g.67966321G>A	NCBI36
NG_008887.1:g.5757G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000204961.5:c.-24G>A MANE Select	ENSP00000204961.4:n.-24G>A
ENST00000204961.4:c.-24G>A	ENSP00000204961.4:n.-24G>A
NM_004429.4:c.-24G>A	NP_004420.1:n.-24G>A
NM_004429.5:c.-24G>A MANE Select	NP_004420.1:n.-24G>A