Canonical Allele Identifier: CA2693969517
Gene: EFNB1 HGNC NCBI

Linked Data

gnomAD v4: X-68829634-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829634G>C , CM000685.2:g.68829634G>C GRCh38
NC_000023.10:g.68049477G>C , CM000685.1:g.68049477G>C GRCh37
NC_000023.9:g.67966202G>C NCBI36
NG_008887.1:g.5638G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.-143G>C MANE Select ENSP00000204961.4:n.-143G>C
ENST00000204961.4:c.-143G>C ENSP00000204961.4:n.-143G>C
NM_004429.4:c.-143G>C NP_004420.1:n.-143G>C
NM_004429.5:c.-143G>C MANE Select NP_004420.1:n.-143G>C
Search 100 bp 5'
Search 100 bp 3'