Canonical Allele Identifier: CA5839741

Gene: HBB

Linked Data

• ClinVar Variation Id: 439778
• ClinVar RCV Id: RCV000505921 ; RCV000759796 ; RCV001104261 ; RCV001107021 ; RCV001104259 ; RCV001104260
• dbSNP Id: rs145669504
• ExAC: 11:5247876 G / T
• gnomAD v2: 11-5247876-G-T
• gnomAD v3: 11-5226646-G-T
• gnomAD v4: 11-5226646-G-T
• MyVariant Identifiers: chr11:g.5247876G>T (hg19) ; chr11:g.5226646G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226646G>T , CM000673.2:g.5226646G>T	GRCh38
NC_000011.9:g.5247876G>T , CM000673.1:g.5247876G>T	GRCh37
NC_000011.8:g.5204452G>T	NCBI36
NG_000007.3:g.70970C>A
NG_059281.1:g.5426C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.246C>A	ENSP00000494175.1:p.Leu82=
ENST00000335295.4:c.246C>A MANE Select	ENSP00000333994.3:p.Leu82=
ENST00000380315.2:c.246C>A	ENSP00000369671.2:p.Leu82=
ENST00000475226.1:n.178C>A
ENST00000485743.1:n.297C>A
ENST00000633227.1:c.*62C>A	ENSP00000488004.1:n.*62C>A
NM_000518.4:c.246C>A	NP_000509.1:p.Leu82=
NM_000518.5:c.246C>A MANE Select	NP_000509.1:p.Leu82=