Canonical Allele Identifier: CA213884

Gene: HBB

Linked Data

• ClinVar Variation Id: 36287
• ClinVar RCV Id: RCV000445650 ; RCV001004365 ; RCV001379381 ; RCV003317048
• dbSNP Id: rs33941377
• gnomAD v3: 11-5227158-G-A
• gnomAD v4: 11-5227158-G-A
• MyVariant Identifiers: chr11:g.5248388G>A (hg19) ; chr11:g.5227158G>A (hg38)
• PubMed: PMID:2018842 ; PMID:20301599

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227158G>A , CM000673.2:g.5227158G>A	GRCh38
NC_000011.9:g.5248388G>A , CM000673.1:g.5248388G>A	GRCh37
NC_000011.8:g.5204964G>A	NCBI36
NG_000007.3:g.70458C>T
NG_059281.1:g.4914C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.-137C>T	ENSP00000494175.1:n.-137C>T
ENST00000380315.2:c.-18-119C>T	ENSP00000369671.2:n.-18-119C>T