Canonical Allele Identifier: CA413437217

Gene: EFNB1

Linked Data

• MyVariant Identifiers: chrX:g.68049738T>A (hg19) ; chrX:g.68829895T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68829895T>A , CM000685.2:g.68829895T>A	GRCh38
NC_000023.10:g.68049738T>A , CM000685.1:g.68049738T>A	GRCh37
NC_000023.9:g.67966463T>A	NCBI36
NG_008887.1:g.5899T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000204961.5:c.119T>A MANE Select	ENSP00000204961.4:p.Leu40His
ENST00000204961.4:c.119T>A	ENSP00000204961.4:p.Leu40His
NM_004429.4:c.119T>A	NP_004420.1:p.Leu40His
NM_004429.5:c.119T>A MANE Select	NP_004420.1:p.Leu40His