Canonical Allele Identifier: CA330857220

Gene: EFNB1

Linked Data

• dbSNP Id: rs773063048
• gnomAD v2: X-68049486-G-C
• gnomAD v3: X-68829643-G-C
• gnomAD v4: X-68829643-G-C
• MyVariant Identifiers: chrX:g.68049486G>C (hg19) ; chrX:g.68829643G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68829643G>C , CM000685.2:g.68829643G>C	GRCh38
NC_000023.10:g.68049486G>C , CM000685.1:g.68049486G>C	GRCh37
NC_000023.9:g.67966211G>C	NCBI36
NG_008887.1:g.5647G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000204961.5:c.-134G>C MANE Select	ENSP00000204961.4:n.-134G>C
ENST00000204961.4:c.-134G>C	ENSP00000204961.4:n.-134G>C
NM_004429.4:c.-134G>C	NP_004420.1:n.-134G>C
NM_004429.5:c.-134G>C MANE Select	NP_004420.1:n.-134G>C