Canonical Allele Identifier: CA342872
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 36329
ClinVar RCV Id: RCV000586720 RCV000861471 RCV001276401 RCV002326693
dbSNP Id: rs36020563
ExAC: 11:5246840 G / A
gnomAD v2: 11-5246840-G-A
gnomAD v3: 11-5225610-G-A
gnomAD v4: 11-5225610-G-A
MyVariant Identifiers: chr11:g.5246840G>A (hg19) chr11:g.5225610G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225610G>A , CM000673.2:g.5225610G>A GRCh38
NC_000011.9:g.5246840G>A , CM000673.1:g.5246840G>A GRCh37
NC_000011.8:g.5203416G>A NCBI36
NG_000007.3:g.72006C>T
NG_059281.1:g.6462C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.432C>T ENSP00000494175.1:p.His144=
ENST00000335295.4:c.432C>T MANE Select ENSP00000333994.3:p.His144=
ENST00000633227.1:c.*248C>T ENSP00000488004.1:n.*248C>T
NM_000518.4:c.432C>T NP_000509.1:p.His144=
NM_000518.5:c.432C>T MANE Select NP_000509.1:p.His144=
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