Canonical Allele Identifier: CA2693969543
Gene: EFNB1 HGNC NCBI

Linked Data

gnomAD v4: X-68829667-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829667C>T , CM000685.2:g.68829667C>T GRCh38
NC_000023.10:g.68049510C>T , CM000685.1:g.68049510C>T GRCh37
NC_000023.9:g.67966235C>T NCBI36
NG_008887.1:g.5671C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.-110C>T MANE Select ENSP00000204961.4:n.-110C>T
ENST00000204961.4:c.-110C>T ENSP00000204961.4:n.-110C>T
NM_004429.4:c.-110C>T NP_004420.1:n.-110C>T
NM_004429.5:c.-110C>T MANE Select NP_004420.1:n.-110C>T