Canonical Allele Identifier: CA136260336

Linked Data

dbSNP Id: rs1021060541
gnomAD v2: 6-26107405-T-C
gnomAD v3: 6-26107177-T-C
gnomAD v4: 6-26107177-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.26107177T>C , CM000668.2:g.26107177T>C GRCh38
NC_000006.11:g.26107405T>C , CM000668.1:g.26107405T>C GRCh37
NC_000006.10:g.26215384T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000707188.1:c.391-16143A>G (H2BC4) ENSP00000516775.1:n.391-16143A>G
ENST00000629531.1:c.132+16596A>G (H2BC3) ENSP00000486472.1:n.132+16596A>G