Canonical Allele Identifier: CA217112896
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 551906
ClinVar RCV Id: RCV000667076 RCV001000150 RCV001004563 RCV001283996
dbSNP Id: rs34483965
gnomAD v2: 11-5246963-G-T
gnomAD v3: 11-5225733-G-T
gnomAD v4: 11-5225733-G-T
MyVariant Identifiers: chr11:g.5246963G>T (hg19) chr11:g.5225733G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225733G>T , CM000673.2:g.5225733G>T GRCh38
NC_000011.9:g.5246963G>T , CM000673.1:g.5246963G>T GRCh37
NC_000011.8:g.5203539G>T NCBI36
NG_000007.3:g.71883C>A
NG_059281.1:g.6339C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.316-7C>A ENSP00000494175.1:n.316-7C>A
ENST00000335295.4:c.316-7C>A MANE Select ENSP00000333994.3:n.316-7C>A
ENST00000475226.1:n.248-7C>A
ENST00000633227.1:c.*132-7C>A ENSP00000488004.1:n.*132-7C>A
NM_000518.4:c.316-7C>A NP_000509.1:n.316-7C>A
NM_000518.5:c.316-7C>A MANE Select NP_000509.1:n.316-7C>A
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