Canonical Allele Identifier: CA3667370

Linked Data

dbSNP Id: rs198844
gnomAD v2: 6-26108282-C-A
gnomAD v3: 6-26108054-C-A
gnomAD v4: 6-26108054-C-A

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000707188.1:c.390+15461G>T (H2BC4) ENSP00000516775.1:n.390+15461G>T
ENST00000338379.6:c.40G>T (H1-6) MANE Select ENSP00000341214.5:p.Val14Leu
ENST00000338379.5:c.40G>T (H1-6) ENSP00000341214.4:p.Val14Leu
ENST00000629531.1:c.132+15719G>T (H2BC3) ENSP00000486472.1:n.132+15719G>T
NM_005323.3:c.40G>T (H1-6) NP_005314.2:p.Val14Leu
NM_005323.4:c.40G>T (H1-6) MANE Select NP_005314.2:p.Val14Leu