Canonical Allele Identifier: CA125420

Gene: HBB

Linked Data

• ClinVar Variation Id: 15540
• ClinVar RCV Id: RCV000016806 ; RCV000756240
• dbSNP Id: rs33912272
• ExAC: 11:5248236 G / A
• gnomAD v2: 11-5248236-G-A
• gnomAD v3: 11-5227006-G-A
• gnomAD v4: 11-5227006-G-A
• MyVariant Identifiers: chr11:g.5248236G>A (hg19) ; chr11:g.5227006G>A (hg38)
• PubMed: PMID:7852088

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227006G>A , CM000673.2:g.5227006G>A	GRCh38
NC_000011.9:g.5248236G>A , CM000673.1:g.5248236G>A	GRCh37
NC_000011.8:g.5204812G>A	NCBI36
NG_000007.3:g.70610C>T
NG_059281.1:g.5066C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.16C>T	ENSP00000494175.1:p.Pro6Ser
ENST00000335295.4:c.16C>T MANE Select	ENSP00000333994.3:p.Pro6Ser
ENST00000380315.2:c.16C>T	ENSP00000369671.2:p.Pro6Ser
ENST00000485743.1:n.67C>T
ENST00000633227.1:c.16C>T	ENSP00000488004.1:p.Pro6Ser
NM_000518.4:c.16C>T	NP_000509.1:p.Pro6Ser
NM_000518.5:c.16C>T MANE Select	NP_000509.1:p.Pro6Ser