Canonical Allele Identifier: CA4917569

Gene: FAM83H

Linked Data

• dbSNP Id: rs781789019
• ExAC: 8:144810762 G / A
• gnomAD v2: 8-144810762-G-A
• gnomAD v3: 8-143728592-G-A
• gnomAD v4: 8-143728592-G-A
• COSMIC: COSM3646116
• MyVariant Identifiers: chr8:g.144810762G>A (hg19) ; chr8:g.143728592G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728592G>A , CM000670.2:g.143728592G>A	GRCh38
NC_000008.10:g.144810762G>A , CM000670.1:g.144810762G>A	GRCh37
NC_000008.9:g.144882750G>A	NCBI36
NG_016652.1:g.10153C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.869C>T MANE Select	ENSP00000373565.3:p.Ala290Val
ENST00000650760.1:c.1472C>T	ENSP00000499217.1:p.Ala491Val
ENST00000388913.3:c.869C>T	ENSP00000373565.3:p.Ala290Val
ENST00000395103.2:c.49C>T
NM_198488.3:c.869C>T	NP_940890.3:p.Ala290Val
XM_005250887.2:c.926C>T	XP_005250944.1:p.Ala309Val
XM_005250888.2:c.887C>T	XP_005250945.1:p.Ala296Val
XM_005250889.2:c.869C>T	XP_005250946.1:p.Ala290Val
XM_011516980.1:c.1190C>T	XP_011515282.1:p.Ala397Val
XM_011516981.1:c.1037C>T	XP_011515283.1:p.Ala346Val
XM_005250887.3:c.926C>T	XP_005250944.1:p.Ala309Val
XM_005250888.3:c.887C>T	XP_005250945.1:p.Ala296Val
XM_005250889.3:c.869C>T	XP_005250946.1:p.Ala290Val
XM_011516980.2:c.1472C>T	XP_011515282.2:p.Ala491Val
XM_011516981.2:c.1037C>T	XP_011515283.1:p.Ala346Val
XM_024447131.1:c.869C>T	XP_024302899.1:p.Ala290Val
NM_198488.4:c.869C>T	NP_940890.3:p.Ala290Val
NM_198488.5:c.869C>T MANE Select	NP_940890.4:p.Ala290Val