Canonical Allele Identifier: CA413436975
Gene: EFNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1301370944
gnomAD v2: X-68049623-G-A
gnomAD v4: X-68829780-G-A
MyVariant Identifiers: chrX:g.68049623G>A (hg19) chrX:g.68829780G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829780G>A , CM000685.2:g.68829780G>A GRCh38
NC_000023.10:g.68049623G>A , CM000685.1:g.68049623G>A GRCh37
NC_000023.9:g.67966348G>A NCBI36
NG_008887.1:g.5784G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.4G>A MANE Select ENSP00000204961.4:p.Ala2Thr
ENST00000204961.4:c.4G>A ENSP00000204961.4:p.Ala2Thr
NM_004429.4:c.4G>A NP_004420.1:p.Ala2Thr
NM_004429.5:c.4G>A MANE Select NP_004420.1:p.Ala2Thr
Search 100 bp 5'
Search 100 bp 3'