Canonical Allele Identifier: CA342870

Gene: HBB

Linked Data

• ClinVar Variation Id: 36327
• ClinVar RCV Id: RCV000029995 ; RCV000860902 ; RCV001107581 ; RCV001107580 ; RCV001107582 ; RCV002354172 ; RCV004532419
• dbSNP Id: rs113082294
• ExAC: 11:5246870 C / G
• gnomAD v2: 11-5246870-C-G
• gnomAD v3: 11-5225640-C-G
• gnomAD v4: 11-5225640-C-G
• MyVariant Identifiers: chr11:g.5246870C>G (hg19) ; chr11:g.5225640C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225640C>G , CM000673.2:g.5225640C>G	GRCh38
NC_000011.9:g.5246870C>G , CM000673.1:g.5246870C>G	GRCh37
NC_000011.8:g.5203446C>G	NCBI36
NG_000007.3:g.71976G>C
NG_059281.1:g.6432G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.402G>C	ENSP00000494175.1:p.Val134=
ENST00000335295.4:c.402G>C MANE Select	ENSP00000333994.3:p.Val134=
ENST00000633227.1:c.*218G>C	ENSP00000488004.1:n.*218G>C
NM_000518.4:c.402G>C	NP_000509.1:p.Val134=
NM_000518.5:c.402G>C MANE Select	NP_000509.1:p.Val134=