Canonical Allele Identifier: CA340510592

Gene: C8B

Linked Data

• MyVariant Identifiers: chr1:g.57422502C>A (hg19) ; chr1:g.56956829C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56956829C>A , CM000663.2:g.56956829C>A	GRCh38
NC_000001.10:g.57422502C>A , CM000663.1:g.57422502C>A	GRCh37
NC_000001.9:g.57195090C>A	NCBI36
NG_007285.1:g.14187G>T , LRG_31:g.14187G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468990.2:c.*172G>T	ENSP00000512215.1:n.*172G>T
ENST00000494324.2:c.*436G>T	ENSP00000512216.1:n.*436G>T
ENST00000695842.1:c.331G>T	ENSP00000512214.1:p.Val111Phe
ENST00000695843.1:c.*172G>T	ENSP00000512217.1:n.*172G>T
ENST00000696144.1:c.331G>T	ENSP00000512436.1:p.Val111Phe
ENST00000696164.1:c.331G>T	ENSP00000512454.1:p.Val111Phe
ENST00000696165.1:c.*172G>T	ENSP00000512455.1:n.*172G>T
ENST00000696166.1:c.*172G>T	ENSP00000512456.1:n.*172G>T
ENST00000371237.9:c.331G>T MANE Select	ENSP00000360281.4:p.Val111Phe
ENST00000371237.8:c.331G>T	ENSP00000360281.4:p.Val111Phe
ENST00000535057.5:c.145G>T	ENSP00000440113.1:p.Val49Phe
ENST00000543257.5:c.175G>T	ENSP00000442548.1:p.Val59Phe
NM_000066.3:c.331G>T	NP_000057.2:p.Val111Phe
NM_001278543.1:c.175G>T	NP_001265472.1:p.Val59Phe
NM_001278544.1:c.145G>T	NP_001265473.1:p.Val49Phe
XM_017002235.1:c.331G>T	XP_016857724.1:p.Val111Phe
XR_001737397.1:n.431G>T
NM_000066.4:c.331G>T MANE Select	NP_000057.3:p.Val111Phe
NM_001278543.2:c.175G>T	NP_001265472.2:p.Val59Phe
NM_001278544.2:c.145G>T	NP_001265473.2:p.Val49Phe