Canonical Allele Identifier: CA379275042

Gene: HBB

Linked Data

• MyVariant Identifiers: chr11:g.5248248C>G (hg19) ; chr11:g.5227018C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227018C>G , CM000673.2:g.5227018C>G	GRCh38
NC_000011.9:g.5248248C>G , CM000673.1:g.5248248C>G	GRCh37
NC_000011.8:g.5204824C>G	NCBI36
NG_000007.3:g.70598G>C
NG_059281.1:g.5054G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.4G>C	ENSP00000494175.1:p.Val2Leu
ENST00000335295.4:c.4G>C MANE Select	ENSP00000333994.3:p.Val2Leu
ENST00000380315.2:c.4G>C	ENSP00000369671.2:p.Val2Leu
ENST00000485743.1:n.55G>C
ENST00000633227.1:c.4G>C	ENSP00000488004.1:p.Val2Leu
NM_000518.4:c.4G>C	NP_000509.1:p.Val2Leu
NM_000518.5:c.4G>C MANE Select	NP_000509.1:p.Val2Leu