Canonical Allele Identifier: CA16609384

Gene: HBB

Linked Data

• ClinVar Variation Id: 393704
• ClinVar RCV Id: RCV000445652 ; RCV002522736
• dbSNP Id: rs34135787
• gnomAD v4: 11-5227039-G-C
• MyVariant Identifiers: chr11:g.5248269G>C (hg19) ; chr11:g.5227039G>C (hg38)
• PubMed: PMID:20301599

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227039G>C , CM000673.2:g.5227039G>C	GRCh38
NC_000011.9:g.5248269G>C , CM000673.1:g.5248269G>C	GRCh37
NC_000011.8:g.5204845G>C	NCBI36
NG_000007.3:g.70577C>G
NG_059281.1:g.5033C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.-18C>G	ENSP00000494175.1:n.-18C>G
ENST00000335295.4:c.-18C>G MANE Select	ENSP00000333994.3:n.-18C>G
ENST00000380315.2:c.-18C>G	ENSP00000369671.2:n.-18C>G
ENST00000485743.1:n.34C>G
ENST00000633227.1:c.-18C>G	ENSP00000488004.1:n.-18C>G
NM_000518.4:c.-18C>G	NP_000509.1:n.-18C>G
NM_000518.5:c.-18C>G MANE Select	NP_000509.1:n.-18C>G