Canonical Allele Identifier: CA2693969625
Gene: EFNB1 HGNC NCBI

Linked Data

gnomAD v4: X-68829912-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829912A>G , CM000685.2:g.68829912A>G GRCh38
NC_000023.10:g.68049755A>G , CM000685.1:g.68049755A>G GRCh37
NC_000023.9:g.67966480A>G NCBI36
NG_008887.1:g.5916A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.128+8A>G MANE Select ENSP00000204961.4:n.128+8A>G
ENST00000204961.4:c.128+8A>G ENSP00000204961.4:n.128+8A>G
NM_004429.4:c.128+8A>G NP_004420.1:n.128+8A>G
NM_004429.5:c.128+8A>G MANE Select NP_004420.1:n.128+8A>G
Search 100 bp 5'
Search 100 bp 3'