Canonical Allele Identifier: CA413437232
Gene: EFNB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829901C>G , CM000685.2:g.68829901C>G GRCh38
NC_000023.10:g.68049744C>G , CM000685.1:g.68049744C>G GRCh37
NC_000023.9:g.67966469C>G NCBI36
NG_008887.1:g.5905C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000204961.5:c.125C>G MANE Select ENSP00000204961.4:p.Pro42Arg
ENST00000204961.4:c.125C>G ENSP00000204961.4:p.Pro42Arg
NM_004429.4:c.125C>G NP_004420.1:p.Pro42Arg
NM_004429.5:c.125C>G MANE Select NP_004420.1:p.Pro42Arg