Canonical Allele Identifier: CA330857238

Gene: EFNB1

Linked Data

• dbSNP Id: rs948332218
• gnomAD v2: X-68049823-T-G
• gnomAD v3: X-68829980-T-G
• gnomAD v4: X-68829980-T-G
• MyVariant Identifiers: chrX:g.68049823T>G (hg19) ; chrX:g.68829980T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68829980T>G , CM000685.2:g.68829980T>G	GRCh38
NC_000023.10:g.68049823T>G , CM000685.1:g.68049823T>G	GRCh37
NC_000023.9:g.67966548T>G	NCBI36
NG_008887.1:g.5984T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000204961.5:c.128+76T>G MANE Select	ENSP00000204961.4:n.128+76T>G
ENST00000204961.4:c.128+76T>G	ENSP00000204961.4:n.128+76T>G
NM_004429.4:c.128+76T>G	NP_004420.1:n.128+76T>G
NM_004429.5:c.128+76T>G MANE Select	NP_004420.1:n.128+76T>G