Canonical Allele Identifier: CA413437177
Gene: EFNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1302592
ClinVar RCV Id: RCV001756266
dbSNP Id: rs1373344087
gnomAD v3: X-68829876-C-G
gnomAD v4: X-68829876-C-G
MyVariant Identifiers: chrX:g.68049719C>G (hg19) chrX:g.68829876C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829876C>G , CM000685.2:g.68829876C>G GRCh38
NC_000023.10:g.68049719C>G , CM000685.1:g.68049719C>G GRCh37
NC_000023.9:g.67966444C>G NCBI36
NG_008887.1:g.5880C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.100C>G MANE Select ENSP00000204961.4:p.Pro34Ala
ENST00000204961.4:c.100C>G ENSP00000204961.4:p.Pro34Ala
NM_004429.4:c.100C>G NP_004420.1:p.Pro34Ala
NM_004429.5:c.100C>G MANE Select NP_004420.1:p.Pro34Ala
Search 100 bp 5'
Search 100 bp 3'