Canonical Allele Identifier: CA342842

Gene: HBB

Linked Data

• ClinVar Variation Id: 36284
• ClinVar RCV Id: RCV000029949
• dbSNP Id: rs33994806
• gnomAD v3: 11-5227157-G-A
• gnomAD v4: 11-5227157-G-A
• MyVariant Identifiers: chr11:g.5248387G>A (hg19) ; chr11:g.5227157G>A (hg38)

Genomic Alleles

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

Transcript Alleles

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