Canonical Allele Identifier: CA413437110
Gene: EFNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1174138217
gnomAD v4: X-68829843-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829843C>T , CM000685.2:g.68829843C>T GRCh38
NC_000023.10:g.68049686C>T , CM000685.1:g.68049686C>T GRCh37
NC_000023.9:g.67966411C>T NCBI36
NG_008887.1:g.5847C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.67C>T MANE Select ENSP00000204961.4:p.Arg23Trp
ENST00000204961.4:c.67C>T ENSP00000204961.4:p.Arg23Trp
NM_004429.4:c.67C>T NP_004420.1:p.Arg23Trp
NM_004429.5:c.67C>T MANE Select NP_004420.1:p.Arg23Trp