Canonical Allele Identifier: CA472638257

Gene: HBB

Linked Data

• gnomAD v4: 11-5225601-G-A
• MyVariant Identifiers: chr11:g.5246831G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225601G>A , CM000673.2:g.5225601G>A	GRCh38
NC_000011.9:g.5246831G>A , CM000673.1:g.5246831G>A	GRCh37
NC_000011.8:g.5203407G>A	NCBI36
NG_000007.3:g.72015C>T
NG_059281.1:g.6471C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.441C>T	ENSP00000494175.1:p.His147=
ENST00000335295.4:c.441C>T MANE Select	ENSP00000333994.3:p.His147=
ENST00000633227.1:c.*257C>T	ENSP00000488004.1:n.*257C>T
NM_000518.4:c.441C>T	NP_000509.1:p.His147=
NM_000518.5:c.441C>T MANE Select	NP_000509.1:p.His147=