Canonical Allele Identifier: CA2693969731
Gene: EFNB1 HGNC NCBI

Linked Data

gnomAD v4: X-68830056-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68830056G>T , CM000685.2:g.68830056G>T GRCh38
NC_000023.10:g.68049899G>T , CM000685.1:g.68049899G>T GRCh37
NC_000023.9:g.67966624G>T NCBI36
NG_008887.1:g.6060G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.128+152G>T MANE Select ENSP00000204961.4:n.128+152G>T
ENST00000204961.4:c.128+152G>T ENSP00000204961.4:n.128+152G>T
NM_004429.4:c.128+152G>T NP_004420.1:n.128+152G>T
NM_004429.5:c.128+152G>T MANE Select NP_004420.1:n.128+152G>T