Canonical Allele Identifier: CA372468968

Gene: FAM83H

Linked Data

• dbSNP Id: rs1818394783
• gnomAD v3: 8-143728490-T-C
• gnomAD v4: 8-143728490-T-C
• MyVariant Identifiers: chr8:g.144810660T>C (hg19) ; chr8:g.143728490T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728490T>C , CM000670.2:g.143728490T>C	GRCh38
NC_000008.10:g.144810660T>C , CM000670.1:g.144810660T>C	GRCh37
NC_000008.9:g.144882648T>C	NCBI36
NG_016652.1:g.10255A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.971A>G MANE Select	ENSP00000373565.3:p.Lys324Arg
ENST00000650760.1:c.1574A>G	ENSP00000499217.1:p.Lys525Arg
ENST00000388913.3:c.971A>G	ENSP00000373565.3:p.Lys324Arg
ENST00000395103.2:c.151A>G
NM_198488.3:c.971A>G	NP_940890.3:p.Lys324Arg
XM_005250887.2:c.1028A>G	XP_005250944.1:p.Lys343Arg
XM_005250888.2:c.989A>G	XP_005250945.1:p.Lys330Arg
XM_005250889.2:c.971A>G	XP_005250946.1:p.Lys324Arg
XM_011516980.1:c.1292A>G	XP_011515282.1:p.Lys431Arg
XM_011516981.1:c.1139A>G	XP_011515283.1:p.Lys380Arg
XM_005250887.3:c.1028A>G	XP_005250944.1:p.Lys343Arg
XM_005250888.3:c.989A>G	XP_005250945.1:p.Lys330Arg
XM_005250889.3:c.971A>G	XP_005250946.1:p.Lys324Arg
XM_011516980.2:c.1574A>G	XP_011515282.2:p.Lys525Arg
XM_011516981.2:c.1139A>G	XP_011515283.1:p.Lys380Arg
XM_024447131.1:c.971A>G	XP_024302899.1:p.Lys324Arg
NM_198488.4:c.971A>G	NP_940890.3:p.Lys324Arg
NM_198488.5:c.971A>G MANE Select	NP_940890.4:p.Lys324Arg