Canonical Allele Identifier: CA472638520
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs1455086436
gnomAD v2: 11-5246930-C-G
gnomAD v4: 11-5225700-C-G
MyVariant Identifiers: chr11:g.5246930C>G (hg19) chr11:g.5225700C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225700C>G , CM000673.2:g.5225700C>G GRCh38
NC_000011.9:g.5246930C>G , CM000673.1:g.5246930C>G GRCh37
NC_000011.8:g.5203506C>G NCBI36
NG_000007.3:g.71916G>C
NG_059281.1:g.6372G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.342G>C ENSP00000494175.1:p.Val114=
ENST00000335295.4:c.342G>C MANE Select ENSP00000333994.3:p.Val114=
ENST00000475226.1:n.274G>C
ENST00000633227.1:c.*158G>C ENSP00000488004.1:n.*158G>C
NM_000518.4:c.342G>C NP_000509.1:p.Val114=
NM_000518.5:c.342G>C MANE Select NP_000509.1:p.Val114=
Search 100 bp 5'
Search 100 bp 3'