Canonical Allele Identifier: CA4917542

Gene: FAM83H

Linked Data

• dbSNP Id: rs782764614
• ExAC: 8:144810668 G / A
• gnomAD v2: 8-144810668-G-A
• gnomAD v3: 8-143728498-G-A
• gnomAD v4: 8-143728498-G-A
• MyVariant Identifiers: chr8:g.144810668G>A (hg19) ; chr8:g.143728498G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728498G>A , CM000670.2:g.143728498G>A	GRCh38
NC_000008.10:g.144810668G>A , CM000670.1:g.144810668G>A	GRCh37
NC_000008.9:g.144882656G>A	NCBI36
NG_016652.1:g.10247C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.963C>T MANE Select	ENSP00000373565.3:p.Ser321=
ENST00000650760.1:c.1566C>T	ENSP00000499217.1:p.Ser522=
ENST00000388913.3:c.963C>T	ENSP00000373565.3:p.Ser321=
ENST00000395103.2:c.143C>T
NM_198488.3:c.963C>T	NP_940890.3:p.Ser321=
XM_005250887.2:c.1020C>T	XP_005250944.1:p.Ser340=
XM_005250888.2:c.981C>T	XP_005250945.1:p.Ser327=
XM_005250889.2:c.963C>T	XP_005250946.1:p.Ser321=
XM_011516980.1:c.1284C>T	XP_011515282.1:p.Ser428=
XM_011516981.1:c.1131C>T	XP_011515283.1:p.Ser377=
XM_005250887.3:c.1020C>T	XP_005250944.1:p.Ser340=
XM_005250888.3:c.981C>T	XP_005250945.1:p.Ser327=
XM_005250889.3:c.963C>T	XP_005250946.1:p.Ser321=
XM_011516980.2:c.1566C>T	XP_011515282.2:p.Ser522=
XM_011516981.2:c.1131C>T	XP_011515283.1:p.Ser377=
XM_024447131.1:c.963C>T	XP_024302899.1:p.Ser321=
NM_198488.4:c.963C>T	NP_940890.3:p.Ser321=
NM_198488.5:c.963C>T MANE Select	NP_940890.4:p.Ser321=