Canonical Allele Identifier: CA1087077961
Gene: H2BC4 HGNC NCBI
H2BC3 HGNC NCBI

Linked Data

dbSNP Id: rs1763427260
gnomAD v3: 6-26116767-C-G
gnomAD v4: 6-26116767-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.26116767C>G , CM000668.2:g.26116767C>G GRCh38
NC_000006.11:g.26116995C>G , CM000668.1:g.26116995C>G GRCh37
NC_000006.10:g.26224974C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000707188.1:c.390+6748G>C (H2BC4) ENSP00000516775.1:n.390+6748G>C
ENST00000314332.5:c.*10-1632G>C (H2BC4) ENSP00000321744.4:n.*10-1632G>C
ENST00000629531.1:c.132+7006G>C (H2BC3) ENSP00000486472.1:n.132+7006G>C
NM_001381989.1:c.*10-1632G>C (H2BC4) NP_001368918.1:n.*10-1632G>C
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