Canonical Allele Identifier: CA125313

Gene: HBB

Linked Data

• ClinVar Variation Id: 15450
• ClinVar RCV Id: RCV000016708 ; RCV000417932 ; RCV000415353 ; RCV000763252 ; RCV001004347 ; RCV001107024 ; RCV001107025 ; RCV002371774 ; RCV002247349 ; RCV003988822 ; RCV004532370
• dbSNP Id: rs35724775
• ExAC: 11:5248154 A / G
• gnomAD v2: 11-5248154-A-G
• gnomAD v3: 11-5226924-A-G
• gnomAD v4: 11-5226924-A-G
• MyVariant Identifiers: chr11:g.5248154A>G (hg19) ; chr11:g.5226924A>G (hg38)
• PubMed: PMID:2200760 ; PMID:6280057 ; PMID:7522523 ; PMID:20301599 ; PMID:20395516 ; PMID:21228398 ; PMID:21797703 ; PMID:22975760 ; PMID:23321370 ; PMID:23348723

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226924A>G , CM000673.2:g.5226924A>G	GRCh38
NC_000011.9:g.5248154A>G , CM000673.1:g.5248154A>G	GRCh37
NC_000011.8:g.5204730A>G	NCBI36
NG_000007.3:g.70692T>C
NG_059281.1:g.5148T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.92+6T>C	ENSP00000494175.1:n.92+6T>C
ENST00000335295.4:c.92+6T>C MANE Select	ENSP00000333994.3:n.92+6T>C
ENST00000380315.2:c.92+6T>C	ENSP00000369671.2:n.92+6T>C
ENST00000485743.1:n.143+6T>C
ENST00000633227.1:c.76+22T>C	ENSP00000488004.1:n.76+22T>C
NM_000518.4:c.92+6T>C	NP_000509.1:n.92+6T>C
NM_000518.5:c.92+6T>C MANE Select	NP_000509.1:n.92+6T>C