Canonical Allele Identifier: CA677538137

Gene: HBB

Linked Data

• dbSNP Id: rs1418232313
• gnomAD v3: 11-5227078-T-C
• gnomAD v4: 11-5227078-T-C
• MyVariant Identifiers: chr11:g.5248308T>C (hg19) ; chr11:g.5227078T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227078T>C , CM000673.2:g.5227078T>C	GRCh38
NC_000011.9:g.5248308T>C , CM000673.1:g.5248308T>C	GRCh37
NC_000011.8:g.5204884T>C	NCBI36
NG_000007.3:g.70538A>G
NG_059281.1:g.4994A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.-57A>G	ENSP00000494175.1:n.-57A>G
ENST00000380315.2:c.-18-39A>G	ENSP00000369671.2:n.-18-39A>G