Canonical Allele Identifier: CA372468785

Gene: FAM83H

Linked Data

• dbSNP Id: rs536088856
• gnomAD v2: 8-144810594-G-C
• gnomAD v4: 8-143728424-G-C
• COSMIC: COSM6360080
• MyVariant Identifiers: chr8:g.144810594G>C (hg19) ; chr8:g.143728424G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728424G>C , CM000670.2:g.143728424G>C	GRCh38
NC_000008.10:g.144810594G>C , CM000670.1:g.144810594G>C	GRCh37
NC_000008.9:g.144882582G>C	NCBI36
NG_016652.1:g.10321C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.1037C>G MANE Select	ENSP00000373565.3:p.Pro346Arg
ENST00000650760.1:c.1640C>G	ENSP00000499217.1:p.Pro547Arg
ENST00000388913.3:c.1037C>G	ENSP00000373565.3:p.Pro346Arg
ENST00000395103.2:c.217C>G
NM_198488.3:c.1037C>G	NP_940890.3:p.Pro346Arg
XM_005250887.2:c.1094C>G	XP_005250944.1:p.Pro365Arg
XM_005250888.2:c.1055C>G	XP_005250945.1:p.Pro352Arg
XM_005250889.2:c.1037C>G	XP_005250946.1:p.Pro346Arg
XM_011516980.1:c.1358C>G	XP_011515282.1:p.Pro453Arg
XM_011516981.1:c.1205C>G	XP_011515283.1:p.Pro402Arg
XM_005250887.3:c.1094C>G	XP_005250944.1:p.Pro365Arg
XM_005250888.3:c.1055C>G	XP_005250945.1:p.Pro352Arg
XM_005250889.3:c.1037C>G	XP_005250946.1:p.Pro346Arg
XM_011516980.2:c.1640C>G	XP_011515282.2:p.Pro547Arg
XM_011516981.2:c.1205C>G	XP_011515283.1:p.Pro402Arg
XM_024447131.1:c.1037C>G	XP_024302899.1:p.Pro346Arg
NM_198488.4:c.1037C>G	NP_940890.3:p.Pro346Arg
NM_198488.5:c.1037C>G MANE Select	NP_940890.4:p.Pro346Arg