Canonical Allele Identifier: CA2693969947
Gene: EFNB1 HGNC NCBI

Linked Data

gnomAD v4: X-68839651-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68839651C>G , CM000685.2:g.68839651C>G GRCh38
NC_000023.10:g.68059494C>G , CM000685.1:g.68059494C>G GRCh37
NC_000023.9:g.67976219C>G NCBI36
NG_008887.1:g.15655C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.407-13C>G MANE Select ENSP00000204961.4:n.407-13C>G
ENST00000204961.4:c.407-13C>G ENSP00000204961.4:n.407-13C>G
NM_004429.4:c.407-13C>G NP_004420.1:n.407-13C>G
NM_004429.5:c.407-13C>G MANE Select NP_004420.1:n.407-13C>G