Canonical Allele Identifier: CA2693969529
Gene: EFNB1 HGNC NCBI

Linked Data

dbSNP Id: rs2147973023
gnomAD v4: X-68829646-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829646G>A , CM000685.2:g.68829646G>A GRCh38
NC_000023.10:g.68049489G>A , CM000685.1:g.68049489G>A GRCh37
NC_000023.9:g.67966214G>A NCBI36
NG_008887.1:g.5650G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.-131G>A MANE Select ENSP00000204961.4:n.-131G>A
ENST00000204961.4:c.-131G>A ENSP00000204961.4:n.-131G>A
NM_004429.4:c.-131G>A NP_004420.1:n.-131G>A
NM_004429.5:c.-131G>A MANE Select NP_004420.1:n.-131G>A
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