Canonical Allele Identifier: CA379273741
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs1310721664
gnomAD v3: 11-5225711-G-C
gnomAD v4: 11-5225711-G-C
MyVariant Identifiers: chr11:g.5246941G>C (hg19) chr11:g.5225711G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225711G>C , CM000673.2:g.5225711G>C GRCh38
NC_000011.9:g.5246941G>C , CM000673.1:g.5246941G>C GRCh37
NC_000011.8:g.5203517G>C NCBI36
NG_000007.3:g.71905C>G
NG_059281.1:g.6361C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.331C>G ENSP00000494175.1:p.Leu111Val
ENST00000335295.4:c.331C>G MANE Select ENSP00000333994.3:p.Leu111Val
ENST00000475226.1:n.263C>G
ENST00000633227.1:c.*147C>G ENSP00000488004.1:n.*147C>G
NM_000518.4:c.331C>G NP_000509.1:p.Leu111Val
NM_000518.5:c.331C>G MANE Select NP_000509.1:p.Leu111Val
Search 100 bp 5'
Search 100 bp 3'