Canonical Allele Identifier: CA330857226
Gene: EFNB1 HGNC NCBI

Linked Data

dbSNP Id: rs766147279
gnomAD v3: X-68829717-G-T
gnomAD v4: X-68829717-G-T
MyVariant Identifiers: chrX:g.68049560G>T (hg19) chrX:g.68829717G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829717G>T , CM000685.2:g.68829717G>T GRCh38
NC_000023.10:g.68049560G>T , CM000685.1:g.68049560G>T GRCh37
NC_000023.9:g.67966285G>T NCBI36
NG_008887.1:g.5721G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000204961.5:c.-60G>T MANE Select ENSP00000204961.4:n.-60G>T
ENST00000204961.4:c.-60G>T ENSP00000204961.4:n.-60G>T
NM_004429.4:c.-60G>T NP_004420.1:n.-60G>T
NM_004429.5:c.-60G>T MANE Select NP_004420.1:n.-60G>T
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