Canonical Allele Identifier: CA642410734
Gene: EFNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1206291895
gnomAD v2: X-68049580-G-A
gnomAD v4: X-68829737-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829737G>A , CM000685.2:g.68829737G>A GRCh38
NC_000023.10:g.68049580G>A , CM000685.1:g.68049580G>A GRCh37
NC_000023.9:g.67966305G>A NCBI36
NG_008887.1:g.5741G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.-40G>A MANE Select ENSP00000204961.4:n.-40G>A
ENST00000204961.4:c.-40G>A ENSP00000204961.4:n.-40G>A
NM_004429.4:c.-40G>A NP_004420.1:n.-40G>A
NM_004429.5:c.-40G>A MANE Select NP_004420.1:n.-40G>A