Canonical Allele Identifier: CA1133959595
Gene: EFNB1 HGNC NCBI

Linked Data

dbSNP Id: rs2080438680
gnomAD v3: X-68829679-G-T
gnomAD v4: X-68829679-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829679G>T , CM000685.2:g.68829679G>T GRCh38
NC_000023.10:g.68049522G>T , CM000685.1:g.68049522G>T GRCh37
NC_000023.9:g.67966247G>T NCBI36
NG_008887.1:g.5683G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.-98G>T MANE Select ENSP00000204961.4:n.-98G>T
ENST00000204961.4:c.-98G>T ENSP00000204961.4:n.-98G>T
NM_004429.4:c.-98G>T NP_004420.1:n.-98G>T
NM_004429.5:c.-98G>T MANE Select NP_004420.1:n.-98G>T
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