Canonical Allele Identifier: CA363186668
Gene: H2BC4 HGNC NCBI
H1-6 HGNC NCBI
H2BC3 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.26108054C>T
GRCh37 chr6:g.26108282C>T
Revel Score:
ENST00000338379 (MANE Select) 0.050
gnomAD v2:
6:26108282 C / T
gnomAD v4:
chr6-26108054-C-T
Joint Max Group AF 0.00000875 (SAS)
Exomes Max Group AF 0.00000924 (SAS)
dbSNP:
198844
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.26108054C>T , CM000668.2:g.26108054C>T GRCh38
NC_000006.11:g.26108282C>T , CM000668.1:g.26108282C>T GRCh37
NC_000006.10:g.26216261C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000707188.1:c.390+15461G>A (H2BC4) ENSP00000516775.1:n.390+15461G>A
ENST00000338379.6:c.40G>A (H1-6) MANE Select ENSP00000341214.5:p.Val14Ile
ENST00000338379.5:c.40G>A (H1-6) ENSP00000341214.4:p.Val14Ile
ENST00000629531.1:c.132+15719G>A (H2BC3) ENSP00000486472.1:n.132+15719G>A
NM_005323.3:c.40G>A (H1-6) NP_005314.2:p.Val14Ile
NM_005323.4:c.40G>A (H1-6) MANE Select NP_005314.2:p.Val14Ile
Search 100 bp 5'
Search 100 bp 3'