Canonical Allele Identifier: CA372468904

Gene: FAM83H

Linked Data

• dbSNP Id: rs1554623420
• gnomAD v2: 8-144810633-G-C
• gnomAD v4: 8-143728463-G-C
• MyVariant Identifiers: chr8:g.144810633G>C (hg19) ; chr8:g.143728463G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728463G>C , CM000670.2:g.143728463G>C	GRCh38
NC_000008.10:g.144810633G>C , CM000670.1:g.144810633G>C	GRCh37
NC_000008.9:g.144882621G>C	NCBI36
NG_016652.1:g.10282C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.998C>G MANE Select	ENSP00000373565.3:p.Pro333Arg
ENST00000650760.1:c.1601C>G	ENSP00000499217.1:p.Pro534Arg
ENST00000388913.3:c.998C>G	ENSP00000373565.3:p.Pro333Arg
ENST00000395103.2:c.178C>G
NM_198488.3:c.998C>G	NP_940890.3:p.Pro333Arg
XM_005250887.2:c.1055C>G	XP_005250944.1:p.Pro352Arg
XM_005250888.2:c.1016C>G	XP_005250945.1:p.Pro339Arg
XM_005250889.2:c.998C>G	XP_005250946.1:p.Pro333Arg
XM_011516980.1:c.1319C>G	XP_011515282.1:p.Pro440Arg
XM_011516981.1:c.1166C>G	XP_011515283.1:p.Pro389Arg
XM_005250887.3:c.1055C>G	XP_005250944.1:p.Pro352Arg
XM_005250888.3:c.1016C>G	XP_005250945.1:p.Pro339Arg
XM_005250889.3:c.998C>G	XP_005250946.1:p.Pro333Arg
XM_011516980.2:c.1601C>G	XP_011515282.2:p.Pro534Arg
XM_011516981.2:c.1166C>G	XP_011515283.1:p.Pro389Arg
XM_024447131.1:c.998C>G	XP_024302899.1:p.Pro333Arg
NM_198488.4:c.998C>G	NP_940890.3:p.Pro333Arg
NM_198488.5:c.998C>G MANE Select	NP_940890.4:p.Pro333Arg