Canonical Allele Identifier: CA372468762

Gene: FAM83H

Linked Data

• dbSNP Id: rs1350463425
• gnomAD v2: 8-144810588-C-A
• gnomAD v4: 8-143728418-C-A
• MyVariant Identifiers: chr8:g.144810588C>A (hg19) ; chr8:g.143728418C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728418C>A , CM000670.2:g.143728418C>A	GRCh38
NC_000008.10:g.144810588C>A , CM000670.1:g.144810588C>A	GRCh37
NC_000008.9:g.144882576C>A	NCBI36
NG_016652.1:g.10327G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.1043G>T MANE Select	ENSP00000373565.3:p.Arg348Leu
ENST00000650760.1:c.1646G>T	ENSP00000499217.1:p.Arg549Leu
ENST00000388913.3:c.1043G>T	ENSP00000373565.3:p.Arg348Leu
ENST00000395103.2:c.223G>T
NM_198488.3:c.1043G>T	NP_940890.3:p.Arg348Leu
XM_005250887.2:c.1100G>T	XP_005250944.1:p.Arg367Leu
XM_005250888.2:c.1061G>T	XP_005250945.1:p.Arg354Leu
XM_005250889.2:c.1043G>T	XP_005250946.1:p.Arg348Leu
XM_011516980.1:c.1364G>T	XP_011515282.1:p.Arg455Leu
XM_011516981.1:c.1211G>T	XP_011515283.1:p.Arg404Leu
XM_005250887.3:c.1100G>T	XP_005250944.1:p.Arg367Leu
XM_005250888.3:c.1061G>T	XP_005250945.1:p.Arg354Leu
XM_005250889.3:c.1043G>T	XP_005250946.1:p.Arg348Leu
XM_011516980.2:c.1646G>T	XP_011515282.2:p.Arg549Leu
XM_011516981.2:c.1211G>T	XP_011515283.1:p.Arg404Leu
XM_024447131.1:c.1043G>T	XP_024302899.1:p.Arg348Leu
NM_198488.4:c.1043G>T	NP_940890.3:p.Arg348Leu
NM_198488.5:c.1043G>T MANE Select	NP_940890.4:p.Arg348Leu