Canonical Allele Identifier: CA124987

Gene: HBB

Linked Data

• ClinVar Variation Id: 15241
• ClinVar RCV Id: RCV000016443 ; RCV000016446 ; RCV001811157 ; RCV001826464
• dbSNP Id: rs33933298
• gnomAD v2: 11-5247827-C-T
• gnomAD v4: 11-5226597-C-T
• MyVariant Identifiers: chr11:g.5247827C>T (hg19) ; chr11:g.5226597C>T (hg38)
• PubMed: PMID:88735 ; PMID:3768534 ; PMID:4514958 ; PMID:4942314 ; PMID:5856115 ; PMID:5881530 ; PMID:6029950 ; PMID:6050213 ; PMID:6067323 ; PMID:7864023 ; PMID:14198723

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226597C>T , CM000673.2:g.5226597C>T	GRCh38
NC_000011.9:g.5247827C>T , CM000673.1:g.5247827C>T	GRCh37
NC_000011.8:g.5204403C>T	NCBI36
NG_000007.3:g.71019G>A
NG_059281.1:g.5475G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.295G>A	ENSP00000494175.1:p.Val99Met
ENST00000335295.4:c.295G>A MANE Select	ENSP00000333994.3:p.Val99Met
ENST00000475226.1:n.227G>A
ENST00000485743.1:n.346G>A
ENST00000633227.1:c.*111G>A	ENSP00000488004.1:n.*111G>A
NM_000518.4:c.295G>A	NP_000509.1:p.Val99Met
NM_000518.5:c.295G>A MANE Select	NP_000509.1:p.Val99Met