Canonical Allele Identifier: CA413437218
Gene: EFNB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.68049738T>C (hg19) chrX:g.68829895T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829895T>C , CM000685.2:g.68829895T>C GRCh38
NC_000023.10:g.68049738T>C , CM000685.1:g.68049738T>C GRCh37
NC_000023.9:g.67966463T>C NCBI36
NG_008887.1:g.5899T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.119T>C MANE Select ENSP00000204961.4:p.Leu40Pro
ENST00000204961.4:c.119T>C ENSP00000204961.4:p.Leu40Pro
NM_004429.4:c.119T>C NP_004420.1:p.Leu40Pro
NM_004429.5:c.119T>C MANE Select NP_004420.1:p.Leu40Pro
Search 100 bp 5'
Search 100 bp 3'