Canonical Allele Identifier: CA413437234
Gene: EFNB1 HGNC NCBI

Linked Data

gnomAD v4: X-68829903-A-C
MyVariant Identifiers: chrX:g.68049746A>C (hg19) chrX:g.68829903A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829903A>C , CM000685.2:g.68829903A>C GRCh38
NC_000023.10:g.68049746A>C , CM000685.1:g.68049746A>C GRCh37
NC_000023.9:g.67966471A>C NCBI36
NG_008887.1:g.5907A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.127A>C MANE Select ENSP00000204961.4:p.Lys43Gln
ENST00000204961.4:c.127A>C ENSP00000204961.4:p.Lys43Gln
NM_004429.4:c.127A>C NP_004420.1:p.Lys43Gln
NM_004429.5:c.127A>C MANE Select NP_004420.1:p.Lys43Gln
Search 100 bp 5'
Search 100 bp 3'