Canonical Allele Identifier: CA823459465

Linked Data

dbSNP Id: rs1485856649
gnomAD v3: 6-26116810-G-A
gnomAD v4: 6-26116810-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.26116810G>A , CM000668.2:g.26116810G>A GRCh38
NC_000006.11:g.26117038G>A , CM000668.1:g.26117038G>A GRCh37
NC_000006.10:g.26225017G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000707188.1:c.390+6705C>T (H2BC4) ENSP00000516775.1:n.390+6705C>T
ENST00000314332.5:c.*10-1675C>T (H2BC4) ENSP00000321744.4:n.*10-1675C>T
ENST00000629531.1:c.132+6963C>T (H2BC3) ENSP00000486472.1:n.132+6963C>T
NM_001381989.1:c.*10-1675C>T (H2BC4) NP_001368918.1:n.*10-1675C>T