Canonical Allele Identifier: CA413437243

Gene: EFNB1

Linked Data

• MyVariant Identifiers: chrX:g.68049749T>G (hg19) ; chrX:g.68829906T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68829906T>G , CM000685.2:g.68829906T>G	GRCh38
NC_000023.10:g.68049749T>G , CM000685.1:g.68049749T>G	GRCh37
NC_000023.9:g.67966474T>G	NCBI36
NG_008887.1:g.5910T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000204961.5:c.128+2T>G MANE Select	ENSP00000204961.4:n.128+2T>G
ENST00000204961.4:c.128+2T>G	ENSP00000204961.4:n.128+2T>G
NM_004429.4:c.128+2T>G	NP_004420.1:n.128+2T>G
NM_004429.5:c.128+2T>G MANE Select	NP_004420.1:n.128+2T>G