Canonical Allele Identifier: CA2693969575
Gene: EFNB1 HGNC NCBI

Linked Data

gnomAD v4: X-68829721-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829721C>T , CM000685.2:g.68829721C>T GRCh38
NC_000023.10:g.68049564C>T , CM000685.1:g.68049564C>T GRCh37
NC_000023.9:g.67966289C>T NCBI36
NG_008887.1:g.5725C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.-56C>T MANE Select ENSP00000204961.4:n.-56C>T
ENST00000204961.4:c.-56C>T ENSP00000204961.4:n.-56C>T
NM_004429.4:c.-56C>T NP_004420.1:n.-56C>T
NM_004429.5:c.-56C>T MANE Select NP_004420.1:n.-56C>T
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