Canonical Allele Identifier: CA5839700
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 495997
ClinVar RCV Id: RCV000587854 RCV001731798 RCV001835859
dbSNP Id: rs34933751
ExAC: 11:5246945 G / A
gnomAD v2: 11-5246945-G-A
gnomAD v3: 11-5225715-G-A
gnomAD v4: 11-5225715-G-A
MyVariant Identifiers: chr11:g.5246945G>A (hg19) chr11:g.5225715G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225715G>A , CM000673.2:g.5225715G>A GRCh38
NC_000011.9:g.5246945G>A , CM000673.1:g.5246945G>A GRCh37
NC_000011.8:g.5203521G>A NCBI36
NG_000007.3:g.71901C>T
NG_059281.1:g.6357C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.327C>T ENSP00000494175.1:p.Asn109=
ENST00000335295.4:c.327C>T MANE Select ENSP00000333994.3:p.Asn109=
ENST00000475226.1:n.259C>T
ENST00000633227.1:c.*143C>T ENSP00000488004.1:n.*143C>T
NM_000518.4:c.327C>T NP_000509.1:p.Asn109=
NM_000518.5:c.327C>T MANE Select NP_000509.1:p.Asn109=
Search 100 bp 5'
Search 100 bp 3'