Canonical Allele Identifier: CA217115878
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs765978352
gnomAD v3: 11-5227180-T-C
gnomAD v4: 11-5227180-T-C
MyVariant Identifiers: chr11:g.5248410T>C (hg19) chr11:g.5227180T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227180T>C , CM000673.2:g.5227180T>C GRCh38
NC_000011.9:g.5248410T>C , CM000673.1:g.5248410T>C GRCh37
NC_000011.8:g.5204986T>C NCBI36
NG_000007.3:g.70436A>G
NG_059281.1:g.4892A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.-159A>G ENSP00000494175.1:n.-159A>G
ENST00000380315.2:c.-18-141A>G ENSP00000369671.2:n.-18-141A>G
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