Canonical Allele Identifier: CA372468456

Gene: FAM83H

Linked Data

• MyVariant Identifiers: chr8:g.144810504A>C (hg19) ; chr8:g.143728334A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728334A>C , CM000670.2:g.143728334A>C	GRCh38
NC_000008.10:g.144810504A>C , CM000670.1:g.144810504A>C	GRCh37
NC_000008.9:g.144882492A>C	NCBI36
NG_016652.1:g.10411T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.1127T>G MANE Select	ENSP00000373565.3:p.Leu376Arg
ENST00000650760.1:c.1730T>G	ENSP00000499217.1:p.Leu577Arg
ENST00000388913.3:c.1127T>G	ENSP00000373565.3:p.Leu376Arg
ENST00000395103.2:c.307T>G
NM_198488.3:c.1127T>G	NP_940890.3:p.Leu376Arg
XM_005250887.2:c.1184T>G	XP_005250944.1:p.Leu395Arg
XM_005250888.2:c.1145T>G	XP_005250945.1:p.Leu382Arg
XM_005250889.2:c.1127T>G	XP_005250946.1:p.Leu376Arg
XM_011516980.1:c.1448T>G	XP_011515282.1:p.Leu483Arg
XM_011516981.1:c.1295T>G	XP_011515283.1:p.Leu432Arg
XM_005250887.3:c.1184T>G	XP_005250944.1:p.Leu395Arg
XM_005250888.3:c.1145T>G	XP_005250945.1:p.Leu382Arg
XM_005250889.3:c.1127T>G	XP_005250946.1:p.Leu376Arg
XM_011516980.2:c.1730T>G	XP_011515282.2:p.Leu577Arg
XM_011516981.2:c.1295T>G	XP_011515283.1:p.Leu432Arg
XM_024447131.1:c.1127T>G	XP_024302899.1:p.Leu376Arg
NM_198488.4:c.1127T>G	NP_940890.3:p.Leu376Arg
NM_198488.5:c.1127T>G MANE Select	NP_940890.4:p.Leu376Arg