Canonical Allele Identifier: CA5839688
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs777218911
ExAC: 11:5246858 C / T
gnomAD v2: 11-5246858-C-T
gnomAD v4: 11-5225628-C-T
MyVariant Identifiers: chr11:g.5246858C>T (hg19) chr11:g.5225628C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225628C>T , CM000673.2:g.5225628C>T GRCh38
NC_000011.9:g.5246858C>T , CM000673.1:g.5246858C>T GRCh37
NC_000011.8:g.5203434C>T NCBI36
NG_000007.3:g.71988G>A
NG_059281.1:g.6444G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.414G>A ENSP00000494175.1:p.Val138=
ENST00000335295.4:c.414G>A MANE Select ENSP00000333994.3:p.Val138=
ENST00000633227.1:c.*230G>A ENSP00000488004.1:n.*230G>A
NM_000518.4:c.414G>A NP_000509.1:p.Val138=
NM_000518.5:c.414G>A MANE Select NP_000509.1:p.Val138=
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