Canonical Allele Identifier: CA642410757

Gene: EFNB1

Linked Data

• dbSNP Id: rs1389526132
• gnomAD v2: X-68049616-G-A
• gnomAD v4: X-68829773-G-A
• MyVariant Identifiers: chrX:g.68049616G>A (hg19) ; chrX:g.68829773G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68829773G>A , CM000685.2:g.68829773G>A	GRCh38
NC_000023.10:g.68049616G>A , CM000685.1:g.68049616G>A	GRCh37
NC_000023.9:g.67966341G>A	NCBI36
NG_008887.1:g.5777G>A

Transcript Alleles

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