Canonical Allele Identifier: CA472638393
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1142046
ClinVar RCV Id: RCV001479710
dbSNP Id: rs1234756429
gnomAD v2: 11-5246891-C-T
gnomAD v4: 11-5225661-C-T
MyVariant Identifiers: chr11:g.5246891C>T (hg19) chr11:g.5225661C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225661C>T , CM000673.2:g.5225661C>T GRCh38
NC_000011.9:g.5246891C>T , CM000673.1:g.5246891C>T GRCh37
NC_000011.8:g.5203467C>T NCBI36
NG_000007.3:g.71955G>A
NG_059281.1:g.6411G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.381G>A ENSP00000494175.1:p.Val127=
ENST00000335295.4:c.381G>A MANE Select ENSP00000333994.3:p.Val127=
ENST00000475226.1:n.313G>A
ENST00000633227.1:c.*197G>A ENSP00000488004.1:n.*197G>A
NM_000518.4:c.381G>A NP_000509.1:p.Val127=
NM_000518.5:c.381G>A MANE Select NP_000509.1:p.Val127=
Search 100 bp 5'
Search 100 bp 3'