Canonical Allele Identifier: CA4917582

Gene: FAM83H

Linked Data

• dbSNP Id: rs782792314
• ExAC: 8:144810796 C / T
• gnomAD v2: 8-144810796-C-T
• gnomAD v4: 8-143728626-C-T
• MyVariant Identifiers: chr8:g.144810796C>T (hg19) ; chr8:g.143728626C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728626C>T , CM000670.2:g.143728626C>T	GRCh38
NC_000008.10:g.144810796C>T , CM000670.1:g.144810796C>T	GRCh37
NC_000008.9:g.144882784C>T	NCBI36
NG_016652.1:g.10119G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.835G>A MANE Select	ENSP00000373565.3:p.Ala279Thr
ENST00000650760.1:c.1438G>A	ENSP00000499217.1:p.Ala480Thr
ENST00000388913.3:c.835G>A	ENSP00000373565.3:p.Ala279Thr
ENST00000395103.2:c.15G>A
NM_198488.3:c.835G>A	NP_940890.3:p.Ala279Thr
XM_005250887.2:c.892G>A	XP_005250944.1:p.Ala298Thr
XM_005250888.2:c.853G>A	XP_005250945.1:p.Ala285Thr
XM_005250889.2:c.835G>A	XP_005250946.1:p.Ala279Thr
XM_011516980.1:c.1156G>A	XP_011515282.1:p.Ala386Thr
XM_011516981.1:c.1003G>A	XP_011515283.1:p.Ala335Thr
XM_005250887.3:c.892G>A	XP_005250944.1:p.Ala298Thr
XM_005250888.3:c.853G>A	XP_005250945.1:p.Ala285Thr
XM_005250889.3:c.835G>A	XP_005250946.1:p.Ala279Thr
XM_011516980.2:c.1438G>A	XP_011515282.2:p.Ala480Thr
XM_011516981.2:c.1003G>A	XP_011515283.1:p.Ala335Thr
XM_024447131.1:c.835G>A	XP_024302899.1:p.Ala279Thr
NM_198488.4:c.835G>A	NP_940890.3:p.Ala279Thr
NM_198488.5:c.835G>A MANE Select	NP_940890.4:p.Ala279Thr