Canonical Allele Identifier: CA379273869

Gene: HBB

Linked Data

• COSMIC: COSM689100
• MyVariant Identifiers: chr11:g.5247920C>A (hg19) ; chr11:g.5226690C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226690C>A , CM000673.2:g.5226690C>A	GRCh38
NC_000011.9:g.5247920C>A , CM000673.1:g.5247920C>A	GRCh37
NC_000011.8:g.5204496C>A	NCBI36
NG_000007.3:g.70926G>T
NG_059281.1:g.5382G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.202G>T	ENSP00000494175.1:p.Val68Leu
ENST00000335295.4:c.202G>T MANE Select	ENSP00000333994.3:p.Val68Leu
ENST00000380315.2:c.202G>T	ENSP00000369671.2:p.Val68Leu
ENST00000475226.1:n.134G>T
ENST00000485743.1:n.253G>T
ENST00000633227.1:c.*18G>T	ENSP00000488004.1:n.*18G>T
NM_000518.4:c.202G>T	NP_000509.1:p.Val68Leu
NM_000518.5:c.202G>T MANE Select	NP_000509.1:p.Val68Leu