Canonical Allele Identifier: CA124914

Gene: HBB

Linked Data

• ClinVar Variation Id: 15202
• ClinVar RCV Id: RCV000016385 ; RCV000029996 ; RCV001004558 ; RCV001284489 ; RCV002290955 ; RCV002321485
• dbSNP Id: rs33949486
• gnomAD v2: 11-5246862-C-T
• gnomAD v3: 11-5225632-C-T
• gnomAD v4: 11-5225632-C-T
• MyVariant Identifiers: chr11:g.5246862C>T (hg19) ; chr11:g.5225632C>T (hg38)
• PubMed: PMID:429843 ; PMID:721614 ; PMID:932531 ; PMID:1428947 ; PMID:1634366 ; PMID:2434529 ; PMID:2703363 ; PMID:6500990 ; PMID:6852251 ; PMID:11791878 ; PMID:14282052 ; PMID:15658184 ; PMID:15697092 ; PMID:16540415 ; PMID:17655700 ; PMID:22145566 ; PMID:25244406 ; PMID:26351951

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225632C>T , CM000673.2:g.5225632C>T	GRCh38
NC_000011.9:g.5246862C>T , CM000673.1:g.5246862C>T	GRCh37
NC_000011.8:g.5203438C>T	NCBI36
NG_000007.3:g.71984G>A
NG_059281.1:g.6440G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.410G>A	ENSP00000494175.1:p.Gly137Asp
ENST00000335295.4:c.410G>A MANE Select	ENSP00000333994.3:p.Gly137Asp
ENST00000633227.1:c.*226G>A	ENSP00000488004.1:n.*226G>A
NM_000518.4:c.410G>A	NP_000509.1:p.Gly137Asp
NM_000518.5:c.410G>A MANE Select	NP_000509.1:p.Gly137Asp