Canonical Allele Identifier: CA413437148
Gene: EFNB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829864A>C , CM000685.2:g.68829864A>C GRCh38
NC_000023.10:g.68049707A>C , CM000685.1:g.68049707A>C GRCh37
NC_000023.9:g.67966432A>C NCBI36
NG_008887.1:g.5868A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.88A>C MANE Select ENSP00000204961.4:p.Lys30Gln
ENST00000204961.4:c.88A>C ENSP00000204961.4:p.Lys30Gln
NM_004429.4:c.88A>C NP_004420.1:p.Lys30Gln
NM_004429.5:c.88A>C MANE Select NP_004420.1:p.Lys30Gln