Canonical Allele Identifier: CA10438097
Gene: EFNB1 HGNC NCBI

Linked Data

dbSNP Id: rs777057878
ExAC: X:68049652 G / A
gnomAD v2: X-68049652-G-A
gnomAD v4: X-68829809-G-A
MyVariant Identifiers: chrX:g.68049652G>A (hg19) chrX:g.68829809G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829809G>A , CM000685.2:g.68829809G>A GRCh38
NC_000023.10:g.68049652G>A , CM000685.1:g.68049652G>A GRCh37
NC_000023.9:g.67966377G>A NCBI36
NG_008887.1:g.5813G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.33G>A MANE Select ENSP00000204961.4:p.Lys11=
ENST00000204961.4:c.33G>A ENSP00000204961.4:p.Lys11=
NM_004429.4:c.33G>A NP_004420.1:p.Lys11=
NM_004429.5:c.33G>A MANE Select NP_004420.1:p.Lys11=
Search 100 bp 5'
Search 100 bp 3'