Canonical Allele Identifier: CA2693969607
Gene: EFNB1 HGNC NCBI

Linked Data

gnomAD v4: X-68829764-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829764T>C , CM000685.2:g.68829764T>C GRCh38
NC_000023.10:g.68049607T>C , CM000685.1:g.68049607T>C GRCh37
NC_000023.9:g.67966332T>C NCBI36
NG_008887.1:g.5768T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.-13T>C MANE Select ENSP00000204961.4:n.-13T>C
ENST00000204961.4:c.-13T>C ENSP00000204961.4:n.-13T>C
NM_004429.4:c.-13T>C NP_004420.1:n.-13T>C
NM_004429.5:c.-13T>C MANE Select NP_004420.1:n.-13T>C