Canonical Allele Identifier: CA413437088
Gene: EFNB1 HGNC NCBI

Linked Data

gnomAD v4: X-68829832-G-T
MyVariant Identifiers: chrX:g.68049675G>T (hg19) chrX:g.68829832G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829832G>T , CM000685.2:g.68829832G>T GRCh38
NC_000023.10:g.68049675G>T , CM000685.1:g.68049675G>T GRCh37
NC_000023.9:g.67966400G>T NCBI36
NG_008887.1:g.5836G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.56G>T MANE Select ENSP00000204961.4:p.Trp19Leu
ENST00000204961.4:c.56G>T ENSP00000204961.4:p.Trp19Leu
NM_004429.4:c.56G>T NP_004420.1:p.Trp19Leu
NM_004429.5:c.56G>T MANE Select NP_004420.1:p.Trp19Leu
Search 100 bp 5'
Search 100 bp 3'