Canonical Allele Identifier: CA217113775

Gene: HBB

Linked Data

• dbSNP Id: rs33987903
• gnomAD v2: 11-5247874-T-C
• gnomAD v4: 11-5226644-T-C
• MyVariant Identifiers: chr11:g.5247874T>C (hg19) ; chr11:g.5226644T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226644T>C , CM000673.2:g.5226644T>C	GRCh38
NC_000011.9:g.5247874T>C , CM000673.1:g.5247874T>C	GRCh37
NC_000011.8:g.5204450T>C	NCBI36
NG_000007.3:g.70972A>G
NG_059281.1:g.5428A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.248A>G	ENSP00000494175.1:p.Lys83Arg
ENST00000335295.4:c.248A>G MANE Select	ENSP00000333994.3:p.Lys83Arg
ENST00000380315.2:c.248A>G	ENSP00000369671.2:p.Lys83Arg
ENST00000475226.1:n.180A>G
ENST00000485743.1:n.299A>G
ENST00000633227.1:c.*64A>G	ENSP00000488004.1:n.*64A>G
NM_000518.4:c.248A>G	NP_000509.1:p.Lys83Arg
NM_000518.5:c.248A>G MANE Select	NP_000509.1:p.Lys83Arg