Canonical Allele Identifier: CA125324

Gene: HBB

Linked Data

• ClinVar Variation Id: 15465
• ClinVar RCV Id: RCV000016723 ; RCV000029948 ; RCV000505925
• dbSNP Id: rs33994806
• gnomAD v4: 11-5227157-G-C
• MyVariant Identifiers: chr11:g.5248387G>C (hg19) ; chr11:g.5227157G>C (hg38)
• PubMed: PMID:1550780 ; PMID:1586746 ; PMID:6280057 ; PMID:20301599 ; PMID:28385923

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227157G>C , CM000673.2:g.5227157G>C	GRCh38
NC_000011.9:g.5248387G>C , CM000673.1:g.5248387G>C	GRCh37
NC_000011.8:g.5204963G>C	NCBI36
NG_000007.3:g.70459C>G
NG_059281.1:g.4915C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.-136C>G	ENSP00000494175.1:n.-136C>G
ENST00000380315.2:c.-18-118C>G	ENSP00000369671.2:n.-18-118C>G