Canonical Allele Identifier: CA472638709
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1997274
ClinVar RCV Id: RCV002823947
dbSNP Id: rs1310721664
gnomAD v2: 11-5246941-G-A
gnomAD v4: 11-5225711-G-A
MyVariant Identifiers: chr11:g.5246941G>A (hg19) chr11:g.5225711G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225711G>A , CM000673.2:g.5225711G>A GRCh38
NC_000011.9:g.5246941G>A , CM000673.1:g.5246941G>A GRCh37
NC_000011.8:g.5203517G>A NCBI36
NG_000007.3:g.71905C>T
NG_059281.1:g.6361C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.331C>T ENSP00000494175.1:p.Leu111=
ENST00000335295.4:c.331C>T MANE Select ENSP00000333994.3:p.Leu111=
ENST00000475226.1:n.263C>T
ENST00000633227.1:c.*147C>T ENSP00000488004.1:n.*147C>T
NM_000518.4:c.331C>T NP_000509.1:p.Leu111=
NM_000518.5:c.331C>T MANE Select NP_000509.1:p.Leu111=
Search 100 bp 5'
Search 100 bp 3'