Canonical Allele Identifier: CA413437207

Gene: EFNB1

Linked Data

• MyVariant Identifiers: chrX:g.68049733C>G (hg19) ; chrX:g.68829890C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68829890C>G , CM000685.2:g.68829890C>G	GRCh38
NC_000023.10:g.68049733C>G , CM000685.1:g.68049733C>G	GRCh37
NC_000023.9:g.67966458C>G	NCBI36
NG_008887.1:g.5894C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000204961.5:c.114C>G MANE Select	ENSP00000204961.4:p.Ser38Arg
ENST00000204961.4:c.114C>G	ENSP00000204961.4:p.Ser38Arg
NM_004429.4:c.114C>G	NP_004420.1:p.Ser38Arg
NM_004429.5:c.114C>G MANE Select	NP_004420.1:p.Ser38Arg