Canonical Allele Identifier: CA677538122

Gene: HBB

Linked Data

• dbSNP Id: rs1463214708
• gnomAD v3: 11-5227077-A-G
• gnomAD v4: 11-5227077-A-G
• MyVariant Identifiers: chr11:g.5248307A>G (hg19) ; chr11:g.5227077A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227077A>G , CM000673.2:g.5227077A>G	GRCh38
NC_000011.9:g.5248307A>G , CM000673.1:g.5248307A>G	GRCh37
NC_000011.8:g.5204883A>G	NCBI36
NG_000007.3:g.70539T>C
NG_059281.1:g.4995T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.-56T>C	ENSP00000494175.1:n.-56T>C
ENST00000380315.2:c.-18-38T>C	ENSP00000369671.2:n.-18-38T>C