Canonical Allele Identifier: CA413437052
Gene: EFNB1 HGNC NCBI

Linked Data

gnomAD v4: X-68829816-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829816G>A , CM000685.2:g.68829816G>A GRCh38
NC_000023.10:g.68049659G>A , CM000685.1:g.68049659G>A GRCh37
NC_000023.9:g.67966384G>A NCBI36
NG_008887.1:g.5820G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.40G>A MANE Select ENSP00000204961.4:p.Val14Met
ENST00000204961.4:c.40G>A ENSP00000204961.4:p.Val14Met
NM_004429.4:c.40G>A NP_004420.1:p.Val14Met
NM_004429.5:c.40G>A MANE Select NP_004420.1:p.Val14Met