Canonical Allele Identifier: CA37665517

Gene: FAM177B

Linked Data

• dbSNP Id: rs868325613
• gnomAD v3: 1-222750026-C-A
• gnomAD v4: 1-222750026-C-A
• MyVariant Identifiers: chr1:g.222923368C>A (hg19) ; chr1:g.222750026C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.222750026C>A , CM000663.2:g.222750026C>A	GRCh38
NC_000001.10:g.222923368C>A , CM000663.1:g.222923368C>A	GRCh37
NC_000001.9:g.220989991C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445590.4:c.445C>A MANE Select	ENSP00000414451.2:p.Gln149Lys
ENST00000360827.6:c.445C>A	ENSP00000354070.2:p.Gln149Lys
ENST00000391880.6:c.*586C>A	ENSP00000375752.2:n.*586C>A
ENST00000445590.3:c.445C>A	ENSP00000414451.2:p.Gln149Lys
NM_207468.2:c.445C>A	NP_997351.2:p.Gln149Lys
XM_006711318.2:c.241+2945C>A	XP_006711381.1:n.241+2945C>A
NM_001324080.1:c.445C>A	NP_001311009.1:p.Gln149Lys
NR_136691.1:n.1215C>A
XM_017001279.1:c.445C>A	XP_016856768.1:p.Gln149Lys
XM_017001280.1:c.445C>A	XP_016856769.1:p.Gln149Lys
XM_017001281.1:c.445C>A	XP_016856770.1:p.Gln149Lys
XM_017001282.1:c.445C>A	XP_016856771.1:p.Gln149Lys
XM_017001285.1:c.274+2945C>A	XP_016856774.1:n.274+2945C>A
NM_001324080.2:c.445C>A	NP_001311009.1:p.Gln149Lys
NM_207468.3:c.445C>A	NP_997351.2:p.Gln149Lys
NR_136691.2:n.1229C>A
NM_001394345.1:c.445C>A MANE Select	NP_001381274.1:p.Gln149Lys