Canonical Allele Identifier: CA642410725
Gene: EFNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1426300745
gnomAD v2: X-68049534-C-T
gnomAD v3: X-68829691-C-T
gnomAD v4: X-68829691-C-T
MyVariant Identifiers: chrX:g.68049534C>T (hg19) chrX:g.68829691C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829691C>T , CM000685.2:g.68829691C>T GRCh38
NC_000023.10:g.68049534C>T , CM000685.1:g.68049534C>T GRCh37
NC_000023.9:g.67966259C>T NCBI36
NG_008887.1:g.5695C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.-86C>T MANE Select ENSP00000204961.4:n.-86C>T
ENST00000204961.4:c.-86C>T ENSP00000204961.4:n.-86C>T
NM_004429.4:c.-86C>T NP_004420.1:n.-86C>T
NM_004429.5:c.-86C>T MANE Select NP_004420.1:n.-86C>T
Search 100 bp 5'
Search 100 bp 3'