Canonical Allele Identifier: CA330857252
Gene: EFNB1 HGNC NCBI

Linked Data

dbSNP Id: rs768033423
MyVariant Identifiers: chrX:g.68049966A>C (hg19) chrX:g.68830123A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68830123A>C , CM000685.2:g.68830123A>C GRCh38
NC_000023.10:g.68049966A>C , CM000685.1:g.68049966A>C GRCh37
NC_000023.9:g.67966691A>C NCBI36
NG_008887.1:g.6127A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.128+219A>C MANE Select ENSP00000204961.4:n.128+219A>C
ENST00000204961.4:c.128+219A>C ENSP00000204961.4:n.128+219A>C
NM_004429.4:c.128+219A>C NP_004420.1:n.128+219A>C
NM_004429.5:c.128+219A>C MANE Select NP_004420.1:n.128+219A>C
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