Canonical Allele Identifier: CA2693969635
Gene: EFNB1 HGNC NCBI

Linked Data

gnomAD v4: X-68829934-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829934G>C , CM000685.2:g.68829934G>C GRCh38
NC_000023.10:g.68049777G>C , CM000685.1:g.68049777G>C GRCh37
NC_000023.9:g.67966502G>C NCBI36
NG_008887.1:g.5938G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.128+30G>C MANE Select ENSP00000204961.4:n.128+30G>C
ENST00000204961.4:c.128+30G>C ENSP00000204961.4:n.128+30G>C
NM_004429.4:c.128+30G>C NP_004420.1:n.128+30G>C
NM_004429.5:c.128+30G>C MANE Select NP_004420.1:n.128+30G>C
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