Canonical Allele Identifier: CA372469411

Gene: FAM83H

Linked Data

• gnomAD v4: 8-143728637-C-T
• MyVariant Identifiers: chr8:g.144810807C>T (hg19) ; chr8:g.143728637C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728637C>T , CM000670.2:g.143728637C>T	GRCh38
NC_000008.10:g.144810807C>T , CM000670.1:g.144810807C>T	GRCh37
NC_000008.9:g.144882795C>T	NCBI36
NG_016652.1:g.10108G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.824G>A MANE Select	ENSP00000373565.3:p.Arg275His
ENST00000650760.1:c.1427G>A	ENSP00000499217.1:p.Arg476His
ENST00000388913.3:c.824G>A	ENSP00000373565.3:p.Arg275His
ENST00000395103.2:c.4G>A
NM_198488.3:c.824G>A	NP_940890.3:p.Arg275His
XM_005250887.2:c.881G>A	XP_005250944.1:p.Arg294His
XM_005250888.2:c.842G>A	XP_005250945.1:p.Arg281His
XM_005250889.2:c.824G>A	XP_005250946.1:p.Arg275His
XM_011516980.1:c.1145G>A	XP_011515282.1:p.Arg382His
XM_011516981.1:c.992G>A	XP_011515283.1:p.Arg331His
XM_005250887.3:c.881G>A	XP_005250944.1:p.Arg294His
XM_005250888.3:c.842G>A	XP_005250945.1:p.Arg281His
XM_005250889.3:c.824G>A	XP_005250946.1:p.Arg275His
XM_011516980.2:c.1427G>A	XP_011515282.2:p.Arg476His
XM_011516981.2:c.992G>A	XP_011515283.1:p.Arg331His
XM_024447131.1:c.824G>A	XP_024302899.1:p.Arg275His
NM_198488.4:c.824G>A	NP_940890.3:p.Arg275His
NM_198488.5:c.824G>A MANE Select	NP_940890.4:p.Arg275His