Canonical Allele Identifier: CA121638
Gene: EFNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 11713
ClinVar RCV Id: RCV000012479
dbSNP Id: rs104894802

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829885T>G , CM000685.2:g.68829885T>G GRCh38
NC_000023.10:g.68049728T>G , CM000685.1:g.68049728T>G GRCh37
NC_000023.9:g.67966453T>G NCBI36
NG_008887.1:g.5889T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000204961.5:c.109T>G MANE Select ENSP00000204961.4:p.Trp37Gly
ENST00000204961.4:c.109T>G ENSP00000204961.4:p.Trp37Gly
NM_004429.4:c.109T>G NP_004420.1:p.Trp37Gly
NM_004429.5:c.109T>G MANE Select NP_004420.1:p.Trp37Gly