Canonical Allele Identifier: CA16602872
Gene: H3C11 HGNC NCBI

Linked Data

ClinVar Variation Id: 376437
dbSNP Id: rs1057519905
gnomAD v4: 6-27872234-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.27872234T>C , CM000668.2:g.27872234T>C GRCh38
NC_000006.11:g.27840012T>C , CM000668.1:g.27840012T>C GRCh37
NC_000006.10:g.27947991T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000616365.2:c.82A>G MANE Select ENSP00000483283.2:p.Lys28Glu
ENST00000616365.1:c.82A>G ENSP00000483283.1:p.Lys28Glu
NM_003533.2:c.82A>G NP_003524.1:p.Lys28Glu
NM_003533.3:c.82A>G MANE Select NP_003524.1:p.Lys28Glu