Canonical Allele Identifier: CA413437223
Gene: EFNB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829898A>C , CM000685.2:g.68829898A>C GRCh38
NC_000023.10:g.68049741A>C , CM000685.1:g.68049741A>C GRCh37
NC_000023.9:g.67966466A>C NCBI36
NG_008887.1:g.5902A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.122A>C MANE Select ENSP00000204961.4:p.Asn41Thr
ENST00000204961.4:c.122A>C ENSP00000204961.4:p.Asn41Thr
NM_004429.4:c.122A>C NP_004420.1:p.Asn41Thr
NM_004429.5:c.122A>C MANE Select NP_004420.1:p.Asn41Thr