Canonical Allele Identifier: CA413437119
Gene: EFNB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829847T>G , CM000685.2:g.68829847T>G GRCh38
NC_000023.10:g.68049690T>G , CM000685.1:g.68049690T>G GRCh37
NC_000023.9:g.67966415T>G NCBI36
NG_008887.1:g.5851T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.71T>G MANE Select ENSP00000204961.4:p.Leu24Arg
ENST00000204961.4:c.71T>G ENSP00000204961.4:p.Leu24Arg
NM_004429.4:c.71T>G NP_004420.1:p.Leu24Arg
NM_004429.5:c.71T>G MANE Select NP_004420.1:p.Leu24Arg