Canonical Allele Identifier: CA213883

Gene: HBB

Linked Data

• ClinVar Variation Id: 36285
• ClinVar RCV Id: RCV000445644 ; RCV000506877 ; RCV000763257 ; RCV001797592 ; RCV002496453
• dbSNP Id: rs33941377
• gnomAD v2: 11-5248388-G-T
• gnomAD v3: 11-5227158-G-T
• gnomAD v4: 11-5227158-G-T
• MyVariant Identifiers: chr11:g.5248388G>T (hg19) ; chr11:g.5227158G>T (hg38)
• PubMed: PMID:1428943 ; PMID:11857738 ; PMID:20301599 ; PMID:26901597 ; PMID:28385923

Genomic Alleles

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

Transcript Alleles

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