Canonical Allele Identifier: CA642410727
Gene: EFNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1414469946
gnomAD v2: X-68049536-G-A
gnomAD v3: X-68829693-G-A
gnomAD v4: X-68829693-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829693G>A , CM000685.2:g.68829693G>A GRCh38
NC_000023.10:g.68049536G>A , CM000685.1:g.68049536G>A GRCh37
NC_000023.9:g.67966261G>A NCBI36
NG_008887.1:g.5697G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.-84G>A MANE Select ENSP00000204961.4:n.-84G>A
ENST00000204961.4:c.-84G>A ENSP00000204961.4:n.-84G>A
NM_004429.4:c.-84G>A NP_004420.1:n.-84G>A
NM_004429.5:c.-84G>A MANE Select NP_004420.1:n.-84G>A